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.K18delFs

c.52delA

Surrounding Variants

7 papers

NM_005546.4

p.Q17*

c.49C>T

1 paper

NM_005546.4

p.Q17L

c.50A>T

1 paper

NM_005546.4

p.K14N

c.42A>C

1 paper

NM_005546.4

p.K14N

c.42A>T

2 papers

NM_005546.4

p.K13N

c.39G>C

2 papers

NM_005546.4

p.K13N

c.39G>T

2 papers

NM_005546.4

p.R20I

c.59G>T

1 paper

NM_005546.4

p.K13E

c.37A>G

1 paper

NM_005546.4

p.T21A

c.61A>G

1 paper

NM_005546.4

p.S22delFs

c.65delC

1 paper

NM_005546.4

p.Q10R

c.29A>G

1 paper

NM_005546.4

p.E8K

c.22G>A