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

3 papers

NM_000212.3

p.V219M

c.655G>A

Surrounding Variants

3 papers

NM_000212.3

p.H218Y

c.652C>T

4 papers

NM_000212.3

p.T221M

c.662C>T

2 papers

NM_000212.3

p.Y216C

c.647A>G

1 paper

NM_000212.3

p.T221T

c.663G>A

1 paper

NM_000212.3

p.Y216N

c.646T>A

11 papers

NM_000212.3

p.L222P

c.665T>C

2 papers

NM_000212.3

p.F214S

c.641T>C

1 paper

NM_000212.3

p.F214C

c.641T>G

1 paper

NM_000212.3

p.D224A

c.671A>C

1 paper

NM_000212.3

p.D224E

c.672C>A

1 paper

NM_000212.3

p.D224E

c.672C>G

2 papers

NM_000212.3

p.Q225delFs

c.674delA