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

11 papers

NM_001079.4

p.K541_K542Splc

c.1624-11G>A

Surrounding Variants

1 paper

NM_001079.4

p.M558V

c.1672A>G

1 paper

NM_001079.4

p.M558I

c.1674G>A

1 paper

NM_001079.4

p.M558I

c.1674G>C

1 paper

NM_001079.4

p.M558I

c.1674G>T

1 paper

NM_001079.4

p.E559E

c.1677G>A

8 papers

NM_001079.4

p.C564R

c.1690T>C

1 paper

NM_001079.4

p.K541_K542Splc

c.1623+6C>T

1 paper

NM_001079.4

p.K541_K542Splc

c.1623+5G>A

1 paper

NM_001079.4

p.K541_K542ins3

c.1621_1625ins9

1 paper

NM_001079.4

p.Y569Y

c.1707C>T

5 papers

NM_001079.4

p.M572L

c.1714A>C

5 papers

NM_001079.4

p.M572L

c.1714A>T