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

4 papers

NM_005546.4

p.P156delFs

c.468delT

Surrounding Variants

1 paper

NM_005546.4

p.P156S

c.466C>T

2 papers

NM_005546.4

p.L157fs

c.469_470fs

1 paper

NM_005546.4

p.P158A

c.472C>G

1 paper

NM_005546.4

p.K154R

c.461A>G

1 paper

NM_005546.4

p.K154*

c.460A>T

1 paper

NM_005546.4

p.P159A

c.475C>G

1 paper

NM_005546.4

p.A152V

c.455C>T

1 paper

NM_005546.4

p.E162*

c.484G>T

1 paper

NM_005546.4

p.E162D

c.486A>C

1 paper

NM_005546.4

p.E162D

c.486A>T

1 paper

NM_005546.4

p.R165_R166Splc

c.495+22G>A

1 paper

NM_005546.4

p.P148L

c.443C>T