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

8 papers

NM_001079.4

p.S518R

c.1554C>G

Surrounding Variants

8 papers

NM_001079.4

p.S518R

c.1554C>A

1 paper

NM_001079.4

p.R519C

c.1555C>T

8 papers

NM_001079.4

p.S518R

c.1552A>C

5 papers

NM_001079.4

p.D521N

c.1561G>A

2 papers

NM_001079.4

p.D521E

c.1563T>A

2 papers

NM_001079.4

p.D521E

c.1563T>G

4 papers

NM_001079.4

p.R514C

c.1540C>T

2 papers

NM_001079.4

p.W523L

c.1568G>T

1 paper

NM_001079.4

p.S524C

c.1570A>T

1 paper

NM_001079.4

p.S524T

c.1571G>C

1 paper

NM_001079.4

p.Y525F

c.1574A>T

1 paper

NM_001079.4

p.C510_I511insFs

c.1529_1532dup4