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

1–12 of 181 variants

11 papers

NM_002204.4

p.A349S

c.1045G>T

10 papers

NM_002204.4

p.R463W

c.1387C>T

9 papers

NM_002204.4

p.R628P

c.1883G>C

7 papers

NM_002204.4

p.R274Q

c.821G>A

6 papers

NM_002204.4

p.G125R

c.373G>A

6 papers

NM_002204.4

p.G125R

c.373G>C

6 papers

NM_002204.4

p.R461Splc

c.1383-11T>A

6 papers

NM_002204.4

p.T513Splc

c.1538-1G>A

5 papers

NM_002204.4

p.A310V

c.929C>T

4 papers

NM_002204.4

p.A391_P392delFs

c.1173_1174delTC

3 papers

NM_002204.4

p.D154A

c.461A>C

3 papers

NM_002204.4

p.R461_A462insLCR

c.1381_1385ins9