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.H52H

c.156C>T

Surrounding Variants

1 paper

NM_001079.4

p.L50_V51insFs

c.150_151ins4

1 paper

NM_001079.4

p.F56S

c.167T>C

2 papers

NM_001079.4

p.V47A

c.140T>C

1 paper

NM_001079.4

p.V47M

c.139G>A

1 paper

NM_001079.4

p.Y46*

c.138T>A

1 paper

NM_001079.4

p.Y46Y

c.138T>C

1 paper

NM_001079.4

p.Y46F

c.137A>T

1 paper

NM_001079.4

p.G45R

c.133G>C

1 paper

NM_001079.4

p.G45C

c.133G>T

1 paper

NM_001079.4

p.I61N

c.182T>A

1 paper

NM_001079.4

p.R63C

c.187C>T

1 paper

NM_001079.4

p.S42T

c.124T>A