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

2 papers

NM_000212.3

p.C657R

c.1969T>C

Surrounding Variants

4 papers

NM_000212.3

p.R659H

c.1976G>A

13 papers

NM_000212.3

p.E654K

c.1960G>A

2 papers

NM_000212.3

p.D653D

c.1959C>T

1 paper

NM_000212.3

p.H652L

c.1955A>T

6 papers

NM_000212.3

p.R662C

c.1984C>T

1 paper

NM_000212.3

p.R662H

c.1985G>A

1 paper

NM_000212.3

p.R662insFs

c.1986dupT

2 papers

NM_000212.3

p.A650V

c.1949C>T

1 paper

NM_000212.3

p.E664*

c.1990G>T

4 papers

NM_000212.3

p.R648W

c.1942C>T

1 paper

NM_000212.3

p.E666K

c.1996G>A

3 papers

NM_000212.3

p.E642*

c.1924G>T