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

25 papers

NM_000212.3

p.G564D

c.1691G>A

Surrounding Variants

3 papers

NM_000212.3

p.G566D

c.1697G>A

1 paper

NM_000212.3

p.Q567*

c.1699C>T

3 papers

NM_000212.3

p.C568R

c.1702T>C

1 paper

NM_000212.3

p.C568Y

c.1703G>A

8 papers

NM_000212.3

p.C575R

c.1723T>C

5 papers

NM_000212.3

p.C575G

c.1723T>G

1 paper

NM_000212.3

p.D576delFs

c.1728delC

3 papers

NM_000212.3

p.D578N

c.1732G>A

3 papers

NM_000212.3

p.C586R

c.1756T>C

1 paper

NM_000212.3

p.C586F

c.1757G>T

1 paper

NM_000212.3

p.T587S

c.1759A>T

1 paper

NM_000212.3

p.T587S

c.1760C>G