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.G271fs

c.811_812fs

Surrounding Variants

2 papers

NM_005546.4

p.G271R

c.811G>A

2 papers

NM_005546.4

p.G271R

c.811G>C

1 paper

NM_005546.4

p.A270G

c.809C>G

1 paper

NM_005546.4

p.Y273C

c.818A>G

1 paper

NM_005546.4

p.R268K

c.803G>A

1 paper

NM_005546.4

p.V275M

c.823G>A

1 paper

NM_005546.4

p.V275L

c.823G>C

1 paper

NM_005546.4

p.V275L

c.823G>T

4 papers

NM_005546.4

p.R265K

c.794G>A

1 paper

NM_005546.4

p.R265M

c.794G>T

1 paper

NM_005546.4

p.V264I

c.790G>A

1 paper

NM_005546.4

p.K280_A281delFs

c.838_841del4