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.K220E

c.658A>G

Surrounding Variants

1 paper

NM_001079.4

p.D216G

c.647A>G

1 paper

NM_001079.4

p.I223I

c.669T>A

1 paper

NM_001079.4

p.Q215Q

c.645A>G

1 paper

NM_001079.4

p.E225K

c.673G>A

1 paper

NM_001079.4

p.E225E

c.675G>A

2 papers

NM_001079.4

p.G226A

c.677G>C

1 paper

NM_001079.4

p.I213N

c.638T>A

1 paper

NM_001079.4

p.T227A

c.679A>G

1 paper

NM_001079.4

p.I213F

c.637A>T

1 paper

NM_001079.4

p.L212P

c.635T>C

1 paper

NM_001079.4

p.Y211H

c.631T>C

1 paper

NM_001079.4

p.D230D

c.690C>T