Varaico: Literature-Extracted Genetic Variants

ZAP70

424 papers

RefSeq Summary

This gene encodes an enzyme belonging to the protein tyrosine kinase family, and it plays a role in T-cell development and lymphocyte activation. This enzyme, which is phosphorylated on tyrosine resid...

Pfam Domains

SH2aa 10–87UCSCSH2 domain

SH2aa 163–239UCSCSH2 domain

PK_Tyr_Ser-Thraa 338–593UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

zeta chain of T cell receptor associated protein kinase 70

HGNC Previous Symbol

SRK

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001079.4

p.P101L

c.302C>T

Surrounding Variants

1 paper

NM_001079.4

p.C102S

c.304T>A

1 paper

NM_001079.4

p.C102R

c.304T>C

1 paper

NM_001079.4

p.C102S

c.305G>C

1 paper

NM_001079.4

p.C102*

c.306C>A

1 paper

NM_001079.4

p.R99S

c.295C>A

1 paper

NM_001079.4

p.R104W

c.310C>T

1 paper

NM_001079.4

p.R104Q

c.311G>A

1 paper

NM_001079.4

p.N97N

c.291C>T

1 paper

NM_001079.4

p.S106W

c.317C>G

1 paper

NM_001079.4

p.C96S

c.287G>C

1 paper

NM_001079.4

p.C96S

c.286T>A

1 paper

NM_001079.4

p.P95insFs

c.283_284insGT