Varaico: Literature-Extracted Genetic Variants

ITK

352 papers

RefSeq Summary

This gene encodes an intracellular tyrosine kinase expressed in T-cells. The protein contains both SH2 and SH3 domains which are often found in intracellular kinases. It is thought to play a role in T...

Pfam Domains

PHaa 5–111UCSCPH domain

BTKaa 119–148UCSCBTK motif

SH3_1aa 177–223UCSCSH3 domain

SH2aa 239–323UCSCSH2 domain

PK_Tyr_Ser-Thraa 363–612UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

IL2 inducible T cell kinase

HGNC Alias Symbols

EMT; PSCTK2; LYK

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005546.4

p.A583delFs

c.1749delC

Surrounding Variants

1 paper

NM_005546.4

p.A583V

c.1748C>T

1 paper

NM_005546.4

p.L582L

c.1744C>T

2 papers

NM_005546.4

p.R581Q

c.1742G>A

20 papers

NM_005546.4

p.R581W

c.1741C>T

6 papers

NM_005546.4

p.V587I

c.1759G>A

1 paper

NM_005546.4

p.Y578Y

c.1734C>T

3 papers

NM_005546.4

p.Y578H

c.1732T>C

2 papers

NM_005546.4

p.Y588C

c.1763A>G

10 papers

NM_005546.4

p.Y588*

c.1764C>A

11 papers

NM_005546.4

p.Y588*

c.1764C>G

1 paper

NM_005546.4

p.M591T

c.1772T>C

1 paper

NM_005546.4

p.C594R

c.1780T>C