Varaico: Literature-Extracted Genetic Variants

ILK

189 papers

RefSeq Summary

This gene encodes a protein with a kinase-like domain and four ankyrin-like repeats. The encoded protein associates at the cell membrane with the cytoplasmic domain of beta integrins, where it regulat...

Pfam Domains

Ank_2aa 4–64UCSCAnkyrin repeats (3 copies)

Ank_2aa 57–130UCSCAnkyrin repeats (3 copies)

PK_Tyr_Ser-Thraa 193–446UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

integrin linked kinase

HGNC Previous Name

integrin-linked kinase

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_004517.4

p.C129W

c.387T>G

Surrounding Variants

1 paper

NM_004517.4

p.Y132C

c.395A>G

1 paper

NM_004517.4

p.S127C

c.379A>T

1 paper

NM_004517.4

p.L125P

c.374T>C

1 paper

NM_004517.4

p.N122Y

c.364A>T

1 paper

NM_004517.4

p.K139R

c.416A>G

3 papers

NM_004517.4

p.R145S

c.435A>C

2 papers

NM_004517.4

p.R145S

c.435A>T

1 paper

NM_004517.4

p.R149G

c.445C>G

1 paper

NM_004517.4

p.R149*

c.445C>T

1 paper

NM_004517.4

p.E153A

c.458A>C

1 paper

NM_004517.4

p.K154N

c.462G>C

1 paper

NM_004517.4

p.K154N

c.462G>T