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

6 papers

NM_001079.4

p.Y319F

c.956A>T

Surrounding Variants

1 paper

NM_001079.4

p.Y319N

c.955T>A

1 paper

NM_001079.4

p.S320G

c.958A>G

1 paper

NM_001079.4

p.S317T

c.950G>C

1 paper

NM_001079.4

p.S317insFs

c.949_950insC

1 paper

NM_001079.4

p.E323*

c.967G>T

8 papers

NM_001079.4

p.Y315F

c.944A>T

1 paper

NM_001079.4

p.E324A

c.971A>C

1 paper

NM_001079.4

p.S313R

c.939C>A

1 paper

NM_001079.4

p.S313R

c.939C>G

1 paper

NM_001079.4

p.L325F

c.973C>T

1 paper

NM_001079.4

p.S313R

c.937A>C

1 paper

NM_001079.4

p.S313G

c.937A>G