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

1–12 of 152 variants

22 papers

NM_004517.4

p.E359K

c.1075G>A

14 papers

NM_004517.4

p.K220M

c.659A>T

9 papers

NM_004517.4

p.H77Y

c.229C>T

9 papers

NM_004517.4

p.L308P

c.923T>C

8 papers

NM_004517.4

p.A262V

c.785C>T

8 papers

NM_004517.4

p.S343A

c.1027T>G

7 papers

NM_004517.4

p.H33N

c.97C>A

7 papers

NM_004517.4

p.P70L

c.209C>T

5 papers

NM_004517.4

p.H99D

c.295C>G

4 papers

NM_004517.4

p.L53M

c.157T>A

4 papers

NM_004517.4

p.C129W

c.387T>G

4 papers

NM_004517.4

p.R211C

c.631C>T