Varaico: Literature-Extracted Genetic Variants

ITGA3

186 papers

RefSeq Summary

The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function as cell surfa...

Pfam Domains

FG-GAPaa 307–345UCSCFG-GAP repeat

FG-GAPaa 369–402UCSCFG-GAP repeat

Integrin_A_Ig_1aa 462–614UCSCIntegrin alpha Ig-like domain 1

Integrin_A_Ig_2aa 615–756UCSCIntegrin alpha Ig-like domain 2

Integrin_A_Ig_3aa 762–981UCSCIntegrin alpha Ig-like domain 3

Gene Aliases

HGNC Name

integrin subunit alpha 3

HGNC Previous Symbol

MSK18

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002204.4

p.C140delFs

c.419delG

Surrounding Variants

1 paper

NM_002204.4

p.L148L

c.442C>T

3 papers

NM_002204.4

p.D154A

c.461A>C

1 paper

NM_002204.4

p.R156insFs

c.467_468insT

1 paper

NM_002204.4

p.R156_R157insFs

c.468_469insT

1 paper

NM_002204.4

p.C162Y

c.485G>A

1 paper

NM_002204.4

p.Y163H

c.487T>C

1 paper

NM_002204.4

p.S173F

c.518C>T

1 paper

NM_002204.4

p.S174I

c.521G>T

1 paper

NM_002204.4

p.E183K

c.547G>A

1 paper

NM_002204.4

p.G195V

c.584G>T

1 paper

NM_002204.4

p.G200insFs

c.600dupC

1 paper

NM_002204.4

p.T206T

c.618C>T