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

2 papers

NM_001079.4

p.G291R

c.871G>C

Surrounding Variants

2 papers

NM_001079.4

p.G291R

c.871G>A

1 paper

NM_001079.4

p.D290A

c.869A>C

16 papers

NM_001079.4

p.Y292F

c.875A>T

1 paper

NM_001079.4

p.T293A

c.877A>G

1 paper

NM_001079.4

p.T293S

c.877A>T

1 paper

NM_001079.4

p.T293S

c.878C>G

1 paper

NM_001079.4

p.T293T

c.879C>T

1 paper

NM_001079.4

p.P294S

c.880C>T

1 paper

NM_001079.4

p.L287V

c.859C>G

1 paper

NM_001079.4

p.A297T

c.889G>A

4 papers

NM_001079.4

p.R283*

c.847C>T

1 paper

NM_001079.4

p.A297Splc

c.889+7G>A