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.A81G

c.242C>G

Surrounding Variants

8 papers

NM_001079.4

p.P80Q

c.239C>A

1 paper

NM_001079.4

p.P80L

c.239C>T

1 paper

NM_001079.4

p.P80fs

c.238_239fs

1 paper

NM_001079.4

p.C84G

c.250T>G

1 paper

NM_001079.4

p.C84C

c.252C>T

1 paper

NM_001079.4

p.C78S

c.232T>A

1 paper

NM_001079.4

p.H77R

c.230A>G

1 paper

NM_001079.4

p.E85G

c.254A>G

2 papers

NM_001079.4

p.F86I

c.256T>A

1 paper

NM_001079.4

p.A76V

c.227C>T

2 papers

NM_001079.4

p.A76T

c.226G>A

1 paper

NM_001079.4

p.Y87N

c.259T>A