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

11 papers

NM_002204.4

p.A349S

c.1045G>T

Surrounding Variants

1 paper

NM_002204.4

p.A349G

c.1046C>G

1 paper

NM_002204.4

p.A349V

c.1046C>T

1 paper

NM_002204.4

p.I342_M346del5

c.1024_1037del15

1 paper

NM_002204.4

p.G339E

c.1016G>A

1 paper

NM_002204.4

p.A328V

c.983C>T

1 paper

NM_002204.4

p.V326insFs

c.977_978insA

1 paper

NM_002204.4

p.V326insFs

c.976_977insA

1 paper

NM_002204.4

p.Q381delFs

c.1141delC

1 paper

NM_002204.4

p.G383E

c.1148G>A

1 paper

NM_002204.4

p.N318del1

c.952_953delAAT

5 papers

NM_002204.4

p.A310V

c.929C>T

1 paper

NM_002204.4

p.A305T

c.913G>A