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.S499delFs

c.1497delT

Surrounding Variants

1 paper

NM_005546.4

p.D500N

c.1498G>A

2 papers

NM_005546.4

p.D500fs

c.1498_1499fs

1 paper

NM_005546.4

p.V498M

c.1492G>A

2 papers

NM_005546.4

p.F501L

c.1501T>C

2 papers

NM_005546.4

p.F501L

c.1503T>A

2 papers

NM_005546.4

p.F501L

c.1503T>G

1 paper

NM_005546.4

p.M503V

c.1507A>G

4 papers

NM_005546.4

p.T504S

c.1510A>T

1 paper

NM_005546.4

p.R505K

c.1514G>A

1 paper

NM_005546.4

p.E492*

c.1474G>T

1 paper

NM_005546.4

p.N487H

c.1459A>C

2 papers

NM_005546.4

p.V507I

c.1519G>A