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

2 papers

NM_005546.4

p.A308delFs

c.922delG

Surrounding Variants

1 paper

NM_005546.4

p.A308P

c.922G>C

2 papers

NM_005546.4

p.A308fs

c.922_923fs

1 paper

NM_005546.4

p.R304Q

c.911G>A

2 papers

NM_005546.4

p.R304*

c.910C>T

1 paper

NM_005546.4

p.K310N

c.930G>C

1 paper

NM_005546.4

p.P302L

c.905C>T

1 paper

NM_005546.4

p.N301_P302del1

c.902_904delATC

1 paper

NM_005546.4

p.D314N

c.940G>A

1 paper

NM_005546.4

p.D314G

c.941A>G

1 paper

NM_005546.4

p.D314V

c.941A>T

1 paper

NM_005546.4

p.L318V

c.952C>G

1 paper

NM_005546.4

p.L318H

c.953T>A