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.R119Q

c.356G>A

Surrounding Variants

1 paper

NM_001079.4

p.D120N

c.358G>A

1 paper

NM_001079.4

p.D120H

c.358G>C

1 paper

NM_001079.4

p.D120G

c.359A>G

1 paper

NM_001079.4

p.D125H

c.373G>C

1 paper

NM_001079.4

p.Y126C

c.377A>G

1 paper

NM_001079.4

p.Y126*

c.378C>A

1 paper

NM_001079.4

p.Q111L

c.332A>T

1 paper

NM_001079.4

p.Q111_P112delFs

c.333_336del4

1 paper

NM_001079.4

p.V127A

c.380T>C

1 paper

NM_001079.4

p.V127V

c.381G>C

1 paper

NM_001079.4

p.R128C

c.382C>T

1 paper

NM_001079.4

p.L108L

c.324C>T