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.H281P

c.842A>C

Surrounding Variants

1 paper

NM_000212.3

p.H281Y

c.841C>T

1 paper

NM_000212.3

p.T280I

c.839C>T

1 paper

NM_000212.3

p.A283T

c.847G>A

1 paper

NM_000212.3

p.K279M

c.836A>T

1 paper

NM_000212.3

p.A283E

c.848C>A

1 paper

NM_000212.3

p.A278V

c.833C>T

1 paper

NM_000212.3

p.D277V

c.830A>T

3 papers

NM_000212.3

p.G286R

c.856G>A

3 papers

NM_000212.3

p.G286R

c.856G>C

1 paper

NM_000212.3

p.T276_D277insFs

c.828_829insT

1 paper

NM_000212.3

p.G286E

c.857G>A

1 paper

NM_000212.3

p.G286A

c.857G>C