PSMB4 (NM_002796.3) sequence variants
(HN3, HsN3, PROS26, PROS-26)

Editor(s): Ivona AKSENTIJEVICH   

Home Page Variants list Sequences Download Useful links Statistics Build your graph Contact Submit a novel sequence variant Submit a novel complex allele
ADA2ADAM17ALPK1AP1S3CARD14CDC42CEBPECOPAELF4F12HCK
IKBKGIL1R1IL1RNIL36RNLACC1LPIN2LYN
MEFVMVKNCSTNNLRC4NLRP1NLRP12NLRP3NLRP7NOD2OTULIN
PLCG1PLCG2POMPPSMA3PSMB10PSMB4PSMB8PSMB9PSMG2PSTPIP1
RBCK1RELARIPK1SAMD9LSH3BP2SLC29A3STING1
TNFAIP3TNFRSF11ATNFRSF1ATRAP1TRNT1UBA1WDR1

🔎

Total current number of sequence variants for PSMB4 : 11

*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
5UT
c.-9G>A
p.0
c.-9G>A
Likely pathogenicTo be validated
 2017-05-172021-03-24
exon 1
c.2T>C
p.?
M1T
Likely pathogenicTo be validated
 2019-05-132019-05-14
exon 1
c.43G>C
p.(Gly15Arg)
G15R
Uncertain significance (VUS)To be validated
 2019-05-132019-05-14
exon 1
c.44dup
p.(Pro16Serfs*45)
p.P16Sfs*45
Not classifiedTo be validated
 2017-05-172019-08-26
exon 2
c.231del
p.(Leu78Trpfs*31)
p.(Leu78Trpfs∗31)
Likely pathogenicTo be validated
 2024-03-03 
exon 3
c.479A>G
p.(Tyr160Cys)
Y160C
Likely pathogenicTo be validated
 2019-05-13 
intron 3
c.494+17A>G
p.?
c.494+17A>G
Likely pathogenicTo be validated
 2024-03-03 
exon 5
c.634_642del
p.(Asp212_Val214del)
p.D212_V214del
Not classifiedTo be validated
 2017-05-172017-08-11
exon 5
c.666C>A
p.(Tyr222*)
Y222X
Not classifiedTo be validated
 2017-09-062022-01-19
exon 6
c.739C>T
p.(Pro247Ser)
P247S
Uncertain significance (VUS)To be validated
 2023-07-26 
3UT
c.*45delT
p.?
*45delT
Uncertain significance (VUS)To be validated
 2019-05-132019-05-14