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.L344P

c.1031T>C

Surrounding Variants

1 paper

NM_001079.4

p.E343G

c.1028A>G

1 paper

NM_001079.4

p.E343K

c.1027G>A

1 paper

NM_001079.4

p.E343*

c.1027G>T

1 paper

NM_001079.4

p.I342T

c.1025T>C

1 paper

NM_001079.4

p.G347D

c.1040G>A

1 paper

NM_001079.4

p.D341N

c.1021G>A

1 paper

NM_001079.4

p.A340A

c.1020T>A

1 paper

NM_001079.4

p.G350G

c.1050C>A

1 paper

NM_001079.4

p.L338F

c.1012C>T

6 papers

NM_001079.4

p.L337R

c.1010T>G

1 paper

NM_001079.4

p.V352insFs

c.1054dupG

1 paper

NM_001079.4

p.V352L

c.1054G>T