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.P305A

c.913C>G

Surrounding Variants

1 paper

NM_001079.4

p.K304E

c.910A>G

1 paper

NM_001079.4

p.R306W

c.916C>T

2 papers

NM_001079.4

p.P307S

c.919C>T

1 paper

NM_001079.4

p.P307L

c.920C>T

1 paper

NM_001079.4

p.S301delFs

c.902delC

3 papers

NM_001079.4

p.P309P

c.927C>T

1 paper

NM_001079.4

p.T300_Y315delFs

c.899_944del46

1 paper

NM_001079.4

p.D311N

c.931G>A

1 paper

NM_001079.4

p.T312S

c.934A>T

1 paper

NM_001079.4

p.S313R

c.937A>C

1 paper

NM_001079.4

p.S313G

c.937A>G

1 paper

NM_001079.4

p.S313R

c.939C>A