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.E153A

c.458A>C

Surrounding Variants

1 paper

NM_004517.4

p.K154N

c.462G>C

1 paper

NM_004517.4

p.K154N

c.462G>T

1 paper

NM_004517.4

p.R161L

c.482G>T

1 paper

NM_004517.4

p.Y164S

c.491A>C

1 paper

NM_004517.4

p.F168C

c.503T>G

1 paper

NM_004517.4

p.W169L

c.506G>T

1 paper

NM_004517.4

p.T172T

c.516C>T

1 paper

NM_004517.4

p.T173P

c.517A>C

1 paper

NM_004517.4

p.T173A

c.517A>G

1 paper

NM_004517.4

p.T173I

c.518C>T

1 paper

NM_004517.4

p.R174H

c.521G>A

1 paper

NM_004517.4

p.R176Q

c.527G>A