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.L330H

c.989T>A

Surrounding Variants

1 paper

NM_001079.4

p.L330P

c.989T>C

2 papers

NM_001079.4

p.L330R

c.989T>G

1 paper

NM_001079.4

p.K328*

c.982A>T

1 paper

NM_001079.4

p.K333_N336del4

c.997_1007del12

1 paper

NM_001079.4

p.D327A

c.980A>C

1 paper

NM_001079.4

p.K326E

c.976A>G

1 paper

NM_001079.4

p.L325F

c.973C>T

1 paper

NM_001079.4

p.E324A

c.971A>C

1 paper

NM_001079.4

p.N336S

c.1007A>G

6 papers

NM_001079.4

p.L337R

c.1010T>G

1 paper

NM_001079.4

p.E323*

c.967G>T

1 paper

NM_001079.4

p.L338F

c.1012C>T