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.P147S

c.439C>T

Surrounding Variants

1 paper

NM_001079.4

p.P147L

c.440C>T

1 paper

NM_001079.4

p.I143L

c.427A>C

1 paper

NM_001079.4

p.K151R

c.452A>G

1 paper

NM_001079.4

p.I142T

c.425T>C

1 paper

NM_001079.4

p.A141G

c.422C>G

1 paper

NM_001079.4

p.I153F

c.457A>T

1 paper

NM_001079.4

p.A141delFs

c.423delC

1 paper

NM_001079.4

p.E139D

c.417G>C

1 paper

NM_001079.4

p.E139D

c.417G>T

1 paper

NM_001079.4

p.T155A

c.463A>G

1 paper

NM_001079.4

p.E139K

c.415G>A

1 paper

NM_001079.4

p.E139Q

c.415G>C