COPA (NM_004371.4) sequence variants
(AILJK, HEP-COP, alpha-COP)

Editor(s): Marie-louise FRÉMOND   

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Total current number of sequence variants for COPA : 31

*Name as first published or submitted to Infevers. May be different from the HGVS edited protein and sequence names.

** If you have new data: please send us a re-evaluation proposal here

HGVS sequence name
HGVS protein name
Usual name*
Classification**
Status**
Simple variant
Complex alleles
exon 3
c.166G>A
p.(Gly56Ser)
p.G56S
Likely benignTo be validated
 2024-01-17 
exon 7
c.596A>G
p.(His199Arg)
p.H199R
PathogenicTo be validated
 2022-06-272024-01-12
exon 8
c.632C>T
p.(Ala211Val)
p.A211V
Likely benignTo be validated
 2024-01-17 
exon 8
c.679C>T
p.(Arg227Cys)
p.R227C
Likely pathogenicTo be validated
 2024-01-17 
exon 8
c.690G>T
p.(Lys230Asn)
p.K230N
PathogenicTo be validated
 2022-03-162022-03-16
exon 8
c.698G>A
p.(Arg233His)
p.R233H
PathogenicTo be validated
 2022-03-162022-03-19
exon 8
c.698G>T
p.(Arg233Leu)
p.R233L
Likely pathogenicTo be validated
 2024-01-17 
exon 9
c.712A>G
p.(Lys238Glu)
p.K238E
Likely pathogenicTo be validated
 2022-03-162022-03-19
exon 9
c.715G>C
p.(Ala239Pro)
p.A239P
Likely pathogenicTo be validated
 2022-03-162022-03-19
exon 9
c.718T>C
p.(Trp240Arg)
p.W240R
Likely pathogenicTo be validated
 2022-03-162022-03-19
exon 9
c.719G>T
p.(Trp240Leu)
p.W240L
Likely pathogenicTo be validated
 2022-03-162022-03-19
exon 9
c.719G>C
p.(Trp240Ser)
p.W240S
Likely pathogenicTo be validated
 2022-03-162022-03-19
exon 9
c.721G>A
p.(Glu241Lys)
p.E241K
PathogenicTo be validated
 2022-03-162022-03-19
exon 9
c.722A>C
p.(Glu241Ala)
p.E241A
Likely pathogenicTo be validated
 2022-03-162022-03-19
exon 9
c.725T>G
p.(Val242Gly)
p.V242G
PathogenicTo be validated
 2022-03-162022-03-19
exon 9
c.727G>A
p.(Asp243Asn)
p.D243N
PathogenicTo be validated
 2022-03-162022-03-19
exon 9
c.728A>G
p.(Asp243Gly)
p.D243G
PathogenicTo be validated
 2022-03-162022-03-19
exon 9
c.788T>C
p.(Leu263Ser)
L263S
Uncertain significance (VUS)To be validated
 2024-02-14 
exon 9
c.841C>T
p.(Arg281Trp)
p.R281W
Likely pathogenicTo be validated
 2022-03-162022-03-19
exon 10
c.855G>C
p.(Gln285His)
p.Q285H
PathogenicTo be validated
 2022-03-162022-03-19
exon 11
c.1016G>A
p.(Arg339Gln)
p.R339Q
BenignTo be validated
 2024-01-17 
exon 12
c.1109A>C
p.(Tyr370Ser)
p.Y370S
BenignTo be validated
 2024-01-17 
exon 14
c.1222C>T
p.(Pro408Ser)
p.P408S
Likely benignTo be validated
 2024-01-17 
exon 17
c.1555G>T
p.(Asp519Tyr)
p.D519Y
Likely benignTo be validated
 2024-01-17 
exon 20
c.2090C>T
p.(Thr697Ile)
T697I
Uncertain significance (VUS)To be validated
 2024-04-23 
exon 23
c.2420A>C
p.(Asn807Thr)
p.Asn807Thr
Likely benignTo be validated
 2024-01-17 
exon 24
c.2483G>A
p.(Gly828Glu)
p.G828E
BenignTo be validated
 2024-01-17 
exon 24
c.2531G>A
p.(Gly844Asp)
G844D
Likely benignTo be validated
 2024-04-232024-04-23
exon 29
c.3038G>C
p.(Cys1013Ser)
p.C1013S
Likely pathogenicTo be validated
 2024-02-13 
exon 30
c.3172C>T
p.(Arg1058Cys)
p.R1058C
Likely pathogenicTo be validated
 2024-02-13 
exon 32
c.3424C>T
p.(Arg1142Ter)
p.R1142X
Likely pathogenicTo be validated
 2024-02-13