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.G196V

c.587G>T

Surrounding Variants

1 paper

NM_001079.4

p.E194insFs

c.580_581insT

1 paper

NM_001079.4

p.K193K

c.579G>A

2 papers

NM_001079.4

p.L200delFs

c.598_599delCT

1 paper

NM_001079.4

p.L200fs

c.598_599fs

14 papers

NM_001079.4

p.R192W

c.574C>T

1 paper

NM_001079.4

p.P191L

c.572C>T

1 paper

NM_001079.4

p.S201F

c.602C>T

3 papers

NM_001079.4

p.R190K

c.569G>A

1 paper

NM_001079.4

p.R190T

c.569G>C

2 papers

NM_001079.4

p.I203V

c.607A>G

1 paper

NM_001079.4

p.I203N

c.608T>A

1 paper

NM_001079.4

p.L189P

c.566T>C