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.V126A

c.377T>C

Surrounding Variants

6 papers

NM_002204.4

p.G125R

c.373G>A

6 papers

NM_002204.4

p.G125R

c.373G>C

1 paper

NM_002204.4

p.L124R

c.371T>G

1 paper

NM_002204.4

p.L124_G125del2

c.370_374del6

1 paper

NM_002204.4

p.G132S

c.394G>A

1 paper

NM_002204.4

p.P133Fs

c.397delinsGAAFs

1 paper

NM_002204.4

p.H116P

c.347A>C

1 paper

NM_002204.4

p.H116delFs

c.347delA

1 paper

NM_002204.4

p.H116fs

c.346_347fs

1 paper

NM_002204.4

p.G115fs

c.343_344fs

1 paper

NM_002204.4

p.P114_H116delFs

c.342_346del5

1 paper

NM_002204.4

p.V110A

c.329T>C