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.A305T

c.913G>A

Surrounding Variants

5 papers

NM_002204.4

p.A310V

c.929C>T

1 paper

NM_002204.4

p.R294S

c.882G>C

1 paper

NM_002204.4

p.N318del1

c.952_953delAAT

1 paper

NM_002204.4

p.S285N

c.854G>A

1 paper

NM_002204.4

p.A280V

c.839C>T

7 papers

NM_002204.4

p.R274Q

c.821G>A

1 paper

NM_002204.4

p.R274G

c.820C>G

1 paper

NM_002204.4

p.N265fs

c.793_794fs

1 paper

NM_002204.4

p.N265insFs

c.794dupA

1 paper

NM_002204.4

p.P263L

c.788C>T

1 paper

NM_002204.4

p.H262Y

c.784C>T

1 paper

NM_002204.4

p.T253M

c.758C>T