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.V96G

c.287T>G

Surrounding Variants

5 papers

NM_004517.4

p.H99D

c.295C>G

2 papers

NM_004517.4

p.I93V

c.277A>G

1 paper

NM_004517.4

p.Y89C

c.266A>G

1 paper

NM_004517.4

p.L86Q

c.257T>A

1 paper

NM_004517.4

p.Q112*

c.334C>T

1 paper

NM_004517.4

p.E117G

c.350A>G

1 paper

NM_004517.4

p.K85_L86Splc

c.255+4C>T

1 paper

NM_004517.4

p.K85R

c.254A>G

1 paper

NM_004517.4

p.K85M

c.254A>T

1 paper

NM_004517.4

p.R80H

c.239G>A

9 papers

NM_004517.4

p.H77Y

c.229C>T

7 papers

NM_004517.4

p.P70L

c.209C>T