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

1–12 of 406 variants

16 papers

NM_001079.4

p.W163C

c.489G>C

16 papers

NM_001079.4

p.W163C

c.489G>T

16 papers

NM_001079.4

p.Y292F

c.875A>T

14 papers

NM_001079.4

p.R192W

c.574C>T

13 papers

NM_001079.4

p.R360P

c.1079G>C

12 papers

NM_001079.4

p.A507V

c.1520C>T

11 papers

NM_001079.4

p.K541_K542Splc

c.1624-11G>A

8 papers

NM_001079.4

p.P80Q

c.239C>A

8 papers

NM_001079.4

p.Y315F

c.944A>T

8 papers

NM_001079.4

p.S518R

c.1552A>C

8 papers

NM_001079.4

p.S518R

c.1554C>A

8 papers

NM_001079.4

p.S518R

c.1554C>G