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.E474K

c.1420G>A

Surrounding Variants

1 paper

NM_005546.4

p.E475*

c.1423G>T

2 papers

NM_005546.4

p.A471T

c.1411G>A

1 paper

NM_005546.4

p.C477*

c.1431T>A

1 paper

NM_005546.4

p.G469A

c.1406G>C

1 paper

NM_005546.4

p.I479I

c.1437C>A

1 paper

NM_005546.4

p.L464L

c.1390C>T

1 paper

NM_005546.4

p.L483_A484Splc

c.1449+4T>C

1 paper

NM_005546.4

p.G461D

c.1382G>A

2 papers

NM_005546.4

p.L460P

c.1379T>C

1 paper

NM_005546.4

p.E457K

c.1369G>A

1 paper

NM_005546.4

p.A455D

c.1364C>A

1 paper

NM_005546.4

p.R451W

c.1351C>T