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.Y546C

c.1637A>G

Surrounding Variants

3 papers

NM_000212.3

p.C547G

c.1639T>G

2 papers

NM_000212.3

p.C547*

c.1641C>A

4 papers

NM_000212.3

p.C547W

c.1641C>G

4 papers

NM_000212.3

p.C547C

c.1641C>T

1 paper

NM_000212.3

p.E548K

c.1642G>A

1 paper

NM_000212.3

p.E548*

c.1642G>T

1 paper

NM_000212.3

p.E548_F552delFs

c.1644_1654del11

4 papers

NM_000212.3

p.C549S

c.1645T>A

14 papers

NM_000212.3

p.C549R

c.1645T>C

4 papers

NM_000212.3

p.C549S

c.1646G>C

2 papers

NM_000212.3

p.D550N

c.1648G>A

1 paper

NM_000212.3

p.D550Y

c.1648G>T