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.R65H

c.194G>A

Surrounding Variants

1 paper

NM_004517.4

p.D68H

c.202G>C

1 paper

NM_004517.4

p.V62insFs

c.185_186insA

1 paper

NM_004517.4

p.V62I

c.184G>A

1 paper

NM_004517.4

p.T69fs

c.205_206fs

2 papers

NM_004517.4

p.L71delFs

c.211delC

1 paper

NM_004517.4

p.P70S

c.208C>T

7 papers

NM_004517.4

p.P70L

c.209C>T

1 paper

NM_004517.4

p.R59W

c.175C>T

1 paper

NM_004517.4

p.R56W

c.166C>T

1 paper

NM_004517.4

p.M55I

c.165G>A

1 paper

NM_004517.4

p.M55I

c.165G>C

1 paper

NM_004517.4

p.M55I

c.165G>T