Varaico: Literature-Extracted Genetic Variants

ITGB3

785 papers

RefSeq Summary

The ITGB3 protein product is the integrin beta chain beta 3. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. A given chain may combine with multiple partners ...

Pfam Domains

PSI_integrinaa 29–76UCSCIntegrin plexin domain

Integrin_betaaa 133–381UCSCIntegrin beta chain VWA domain

I-EGF_1aa 463–492UCSCIntegrin beta epidermal growth factor like domain 1

EGF_integrinaa 506–548UCSCIntegrin EGF domain

EGF_2aa 593–624UCSCEGF-like domain

Integrin_B_tailaa 632–717UCSCIntegrin beta tail domain

Gene Aliases

HGNC Name

integrin subunit beta 3

HGNC Previous Symbol

GP3A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000212.3

p.E81A

c.242A>C

Surrounding Variants

1 paper

NM_000212.3

p.E81insFs

c.243dupG

1 paper

NM_000212.3

p.F82C

c.245T>G

1 paper

NM_000212.3

p.P83S

c.247C>T

1 paper

NM_000212.3

p.V84V

c.252G>A

1 paper

NM_000212.3

p.S85N

c.254G>A

1 paper

NM_000212.3

p.A76A

c.228C>T

2 papers

NM_000212.3

p.C75fs

c.223_224fs

6 papers

NM_000212.3

p.R88*

c.262C>T

4 papers

NM_000212.3

p.R88Q

c.263G>A

1 paper

NM_000212.3

p.L90V

c.268C>G

1 paper

NM_000212.3

p.L71Q

c.212T>A

5 papers

NM_000212.3

p.R93W

c.277A>T