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.K541_K542Splc

c.1623+5G>A

Surrounding Variants

1 paper

NM_001079.4

p.K541_K542Splc

c.1623+6C>T

1 paper

NM_001079.4

p.K541_K542ins3

c.1621_1625ins9

4 papers

NM_001079.4

p.G536S

c.1606G>A

3 papers

NM_001079.4

p.S534S

c.1602C>T

1 paper

NM_001079.4

p.A532T

c.1594G>A

1 paper

NM_001079.4

p.Y525F

c.1574A>T

1 paper

NM_001079.4

p.S524T

c.1571G>C

1 paper

NM_001079.4

p.S524C

c.1570A>T

2 papers

NM_001079.4

p.W523L

c.1568G>T

2 papers

NM_001079.4

p.D521E

c.1563T>A

2 papers

NM_001079.4

p.D521E

c.1563T>G

5 papers

NM_001079.4

p.D521N

c.1561G>A