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

1 paper

NM_004517.4

p.M301V

c.901A>G

Surrounding Variants

1 paper

NM_004517.4

p.M301T

c.902T>C

9 papers

NM_004517.4

p.L308P

c.923T>C

1 paper

NM_004517.4

p.L311I

c.931C>A

1 paper

NM_004517.4

p.D290N

c.868G>A

1 paper

NM_004517.4

p.E312K

c.934G>A

1 paper

NM_004517.4

p.L314H

c.941T>A

1 paper

NM_004517.4

p.F287S

c.860T>C

2 papers

NM_004517.4

p.R317*

c.949C>T

1 paper

NM_004517.4

p.R317Q

c.950G>A

1 paper

NM_004517.4

p.N279K

c.837T>A

1 paper

NM_004517.4

p.Y278H

c.832T>C

2 papers

NM_004517.4

p.P273R

c.818C>G