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

2 papers

NM_002204.4

p.P392fs

c.1174_1175fs

Surrounding Variants

4 papers

NM_002204.4

p.A391_P392delFs

c.1173_1174delTC

1 paper

NM_002204.4

p.D386Splc

c.1157-1G>A

1 paper

NM_002204.4

p.K407E

c.1219A>G

2 papers

NM_002204.4

p.L409R

c.1226T>G

1 paper

NM_002204.4

p.L427L

c.1279T>C

1 paper

NM_002204.4

p.E442delFs

c.1326delG

1 paper

NM_002204.4

p.D455H

c.1363G>C

1 paper

NM_002204.4

p.V458L

c.1372G>C

1 paper

NM_002204.4

p.V458L

c.1372G>T

3 papers

NM_002204.4

p.R461_A462insLCR

c.1381_1385ins9

1 paper

NM_002204.4

p.R461Q

c.1382G>A

6 papers

NM_002204.4

p.R461Splc

c.1383-11T>A