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

3 papers

NM_001079.4

p.R170C

c.508C>T

Surrounding Variants

1 paper

NM_001079.4

p.E171A

c.512A>C

3 papers

NM_001079.4

p.E171G

c.512A>G

1 paper

NM_001079.4

p.L168M

c.502C>A

1 paper

NM_001079.4

p.H165_S166delins

c.495_496delinsAT

1 paper

NM_001079.4

p.E174E

c.522G>A

1 paper

NM_001079.4

p.H165fs

c.493_494fs

2 papers

NM_001079.4

p.R175H

c.524G>A

2 papers

NM_001079.4

p.R175L

c.524G>T

1 paper

NM_001079.4

p.Y164F

c.491A>T

2 papers

NM_001079.4

p.Y164delFs

c.492delC

16 papers

NM_001079.4

p.W163C

c.489G>C

16 papers

NM_001079.4

p.W163C

c.489G>T