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

14 papers

NM_004517.4

p.K220M

c.659A>T

Surrounding Variants

1 paper

NM_004517.4

p.K220R

c.659A>G

1 paper

NM_004517.4

p.I217T

c.650T>C

1 paper

NM_004517.4

p.K223N

c.669G>C

1 paper

NM_004517.4

p.K223N

c.669G>T

1 paper

NM_004517.4

p.V224G

c.671T>G

1 paper

NM_004517.4

p.W227*

c.680G>A

1 paper

NM_004517.4

p.S228R

c.682A>C

1 paper

NM_004517.4

p.S228R

c.684T>A

1 paper

NM_004517.4

p.S228R

c.684T>G

2 papers

NM_004517.4

p.R211H

c.632G>A

4 papers

NM_004517.4

p.R211C

c.631C>T

1 paper

NM_004517.4

p.K209R

c.626A>G