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

1–12 of 317 variants

20 papers

NM_005546.4

p.R581W

c.1741C>T

15 papers

NM_005546.4

p.R335W

c.1003C>T

14 papers

NM_005546.4

p.R29C

c.85C>T

11 papers

NM_005546.4

p.Y588*

c.1764C>G

10 papers

NM_005546.4

p.Y588*

c.1764C>A

7 papers

NM_005546.4

p.Q17*

c.49C>T

7 papers

NM_005546.4

p.R29H

c.86G>A

6 papers

NM_005546.4

p.R448H

c.1343G>A

6 papers

NM_005546.4

p.V587I

c.1759G>A

4 papers

NM_005546.4

p.P156delFs

c.468delT

4 papers

NM_005546.4

p.R265K

c.794G>A

4 papers

NM_005546.4

p.S499delFs

c.1497delT