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.C612Y

c.1835G>A

Surrounding Variants

1 paper

NM_000212.3

p.V613_C614del2

c.1837_1841del6

1 paper

NM_000212.3

p.G610S

c.1828G>A

1 paper

NM_000212.3

p.Q616*

c.1846C>T

1 paper

NM_000212.3

p.P617L

c.1850C>T

2 papers

NM_000212.3

p.K606N

c.1818G>T

1 paper

NM_000212.3

p.G605G

c.1815C>T

1 paper

NM_000212.3

p.G605D

c.1814G>A

7 papers

NM_000212.3

p.G605S

c.1813G>A

1 paper

NM_000212.3

p.C601Fs

c.1802delinsGTCACAFs

4 papers

NM_000212.3

p.C601R

c.1801T>C

2 papers

NM_000212.3

p.C601G

c.1801T>G

4 papers

NM_000212.3

p.C624Y

c.1871G>A