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.R562Q

c.1685G>A

Surrounding Variants

1 paper

NM_005546.4

p.S565L

c.1694C>T

1 paper

NM_005546.4

p.P558L

c.1673C>T

1 paper

NM_005546.4

p.G555A

c.1664G>C

1 paper

NM_005546.4

p.G555V

c.1664G>T

1 paper

NM_005546.4

p.G555fs

c.1663_1664fs

1 paper

NM_005546.4

p.G555delFs

c.1664delG

1 paper

NM_005546.4

p.E554K

c.1660G>A

1 paper

NM_005546.4

p.M548I

c.1644G>A

1 paper

NM_005546.4

p.M548I

c.1644G>C

1 paper

NM_005546.4

p.M548I

c.1644G>T

3 papers

NM_005546.4

p.Y578H

c.1732T>C

1 paper

NM_005546.4

p.Y578Y

c.1734C>T