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.R335Fs

c.1003delinsGAFs

Surrounding Variants

15 papers

NM_005546.4

p.R335W

c.1003C>T

2 papers

NM_005546.4

p.G341_K344delFs

c.1022_1032del11

2 papers

NM_005546.4

p.R342fs

c.1024_1025fs

1 paper

NM_005546.4

p.Q343*

c.1027C>T

1 paper

NM_005546.4

p.A349S

c.1045G>T

1 paper

NM_005546.4

p.A349E

c.1046C>A

1 paper

NM_005546.4

p.R352insFs

c.1054dupA

1 paper

NM_005546.4

p.G354R

c.1060G>A

1 paper

NM_005546.4

p.G354R

c.1060G>C

1 paper

NM_005546.4

p.G329Splc

c.985+75G>A

1 paper

NM_005546.4

p.G329Splc

c.985+6C>G

1 paper

NM_005546.4

p.G327E

c.980G>A