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.R349L

c.1046G>T

Surrounding Variants

1 paper

NM_004517.4

p.R349H

c.1046G>A

3 papers

NM_004517.4

p.C346S

c.1037G>C

3 papers

NM_004517.4

p.C346S

c.1036T>A

1 paper

NM_004517.4

p.F344I

c.1030T>A

1 paper

NM_004517.4

p.W355C

c.1065G>C

1 paper

NM_004517.4

p.W355C

c.1065G>T

8 papers

NM_004517.4

p.S343A

c.1027T>G

1 paper

NM_004517.4

p.V340V

c.1020C>T

1 paper

NM_004517.4

p.P358S

c.1072C>T

1 paper

NM_004517.4

p.V340G

c.1019T>G

22 papers

NM_004517.4

p.E359K

c.1075G>A

1 paper

NM_004517.4

p.D339N

c.1015G>A