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

7 papers

NM_000212.3

p.R119Q

c.356G>A

Surrounding Variants

3 papers

NM_000212.3

p.R119W

c.355C>T

4 papers

NM_000212.3

p.L118H

c.353T>A

1 paper

NM_000212.3

p.R117Q

c.350G>A

5 papers

NM_000212.3

p.R117W

c.349C>T

2 papers

NM_000212.3

p.L116V

c.346C>G

1 paper

NM_000212.3

p.L116F

c.346C>T

1 paper

NM_000212.3

p.A115V

c.344C>T

1 paper

NM_000212.3

p.I114I

c.342T>C

1 paper

NM_000212.3

p.Q112Q

c.336G>A

1 paper

NM_000212.3

p.Q108insFs

c.323_324ins10

2 papers

NM_000212.3

p.S103N

c.308G>A

1 paper

NM_000212.3

p.G101G

c.303A>T