PSTPIP1 (NM_003978.5) sequence variants

Editor(s): Isabella CECCHERINI   

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ADA2ADAM17ALPK1AP1S3CARD14CDC42CEBPECOPAELF4F12HCK
IKBKGIL1R1IL1RNIL36RNLACC1LPIN2LYN
MEFVMVKNCSTNNLRC4NLRP1NLRP12NLRP3NLRP7NOD2OTULIN
PLCG1PLCG2POMPPSMA3PSMB10PSMB4PSMB8PSMB9PSMG2PSTPIP1
RBCK1RELARIPK1SAMD9LSH3BP2SLC29A3STING1
TNFAIP3TNFRSF11ATNFRSF1ATRAP1TRNT1UBA1WDR1

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    75 sequence variant(s) among 75  
 
 
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Flanking region
UTR region
Exonic region
Intronic region
 
5' flanking X
No variants
X 5' UTR
  c.-282G>T  c.-187G>A
Exon 1 X
  M2T
Intron 1X
No variants
Exon 2 X
  T20M  K34T
Intron 2X
  c.137+47G>C
Exon 3 X
  A49V  E51D  R52Q
  L57R  R62W  A64T
  T68M
Intron 3X
No variants
Exon 4 X
No variants
Intron 4X
No variants
Exon 5 X
  E110D
Intron 5X
No variants
Exon 6 X
  Y119C  V122I  M123_K128delinsTMLLSQ
  M123_L416delinsT  D124_K128delinsGMLLS  L133_K136delinsPPDP
Intron 6X
No variants
Exon 7 X
No variants
Intron 7X
No variants
Exon 8 X
  K181=
Intron 8X
No variants
Exon 9 X
  R202W  R210W
Intron 9X
No variants
Exon 10 X
  Q219*  Q219H  E220_I226delinsDRQFHPG
  D222_L416delinsSTRKCG  R228C  A230T
  N236K  Q237_M240delinsRHRQ  S239P
  Q241R  D246N
Intron 10X
  c.741+27G>T  c.741+32_741+33dup
Exon 11 X
  E250Q  E250K  T255M
  E257K  E257G  G258R
  p.G258S  G258A  D266N
  T274M  E277D
Intron 11X
No variants
Exon 12 X
  D289H  P299S  C305=
Intron 12X
No variants
Exon 13 X
  S323L
Intron 13X
  c.986-33dupA
Exon 14 X
  A329V  T337Pfs*52  P338_A347delinsLSERRVVHTS
  E339_N341delinsGGM  V344I  Y345C
  E352K  E352A  R365W
  D369G  A372V
Intron 14X
  c.1120-44_1120-31del  c.1120-12T>C
Exon 15 X
  D384G  I385T  E393=
  G395S  G403R  G403E
  R405C  F407L  V408I
3' UTR X
  c.*156_*158del
3' flanking X
No variants