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.P148T

c.442C>A

Surrounding Variants

1 paper

NM_005546.4

p.P148L

c.443C>T

1 paper

NM_005546.4

p.D147N

c.439G>A

1 paper

NM_005546.4

p.A144V

c.431C>T

1 paper

NM_005546.4

p.G142D

c.425G>A

1 paper

NM_005546.4

p.C133G

c.397T>G

1 paper

NM_005546.4

p.C132Y

c.395G>A

1 paper

NM_005546.4

p.C132G

c.394T>G

1 paper

NM_005546.4

p.M126L

c.376A>C

1 paper

NM_005546.4

p.M126L

c.376A>T

1 paper

NM_005546.4

p.Y120Y

c.360T>C

2 papers

NM_005546.4

p.H121_P122del1

c.362_364delATC

1 paper

NM_005546.4

p.P118T

c.352C>A