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

9 papers

NM_002204.4

p.R628P

c.1883G>C

Surrounding Variants

1 paper

NM_002204.4

p.R628Q

c.1883G>A

1 paper

NM_002204.4

p.A630V

c.1889C>T

1 paper

NM_002204.4

p.L625_Q626Fs

c.1874_1876delinsCFs

1 paper

NM_002204.4

p.L639P

c.1916T>C

1 paper

NM_002204.4

p.R641Splc

c.1922+1G>A

2 papers

NM_002204.4

p.Q610P

c.1829A>C

1 paper

NM_002204.4

p.E608_V609Splc

c.1825-1G>A

1 paper

NM_002204.4

p.E608_V609Splc

c.1825-5C>A

1 paper

NM_002204.4

p.P595T

c.1783C>A

1 paper

NM_002204.4

p.S590F

c.1769C>T

1 paper

NM_002204.4

p.P584S

c.1750C>T

1 paper

NM_002204.4

p.R579W

c.1735C>T