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

6 papers

NM_002204.4

p.T513Splc

c.1538-1G>A

Surrounding Variants

1 paper

NM_002204.4

p.T517delFs

c.1549delA

1 paper

NM_002204.4

p.R524G

c.1570C>G

1 paper

NM_002204.4

p.R524C

c.1570C>T

2 papers

NM_002204.4

p.R525W

c.1573C>T

1 paper

NM_002204.4

p.R528W

c.1582C>T

1 paper

NM_002204.4

p.G533S

c.1597G>A

1 paper

NM_002204.4

p.S536S

c.1608C>T

1 paper

NM_002204.4

p.T513Splc

c.1537+1G>A

1 paper

NM_002204.4

p.N507T

c.1520A>C

1 paper

NM_002204.4

p.C550delFs

c.1649delG

1 paper

NM_002204.4

p.L495R

c.1484T>G

1 paper

NM_002204.4

p.S571C

c.1712C>G