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.L731Fs

c.2191_2192delinsGFs

Surrounding Variants

1 paper

NM_000212.3

p.I730M

c.2190T>G

1 paper

NM_000212.3

p.L731R

c.2192T>G

1 paper

NM_000212.3

p.L732I

c.2194C>A

1 paper

NM_000212.3

p.A729A

c.2187C>A

1 paper

NM_000212.3

p.A737T

c.2209G>A

1 paper

NM_000212.3

p.L724F

c.2170C>T

1 paper

NM_000212.3

p.L739insFs

c.2216_2217ins4

2 papers

NM_000212.3

p.L739delFs

c.2217delC

1 paper

NM_000212.3

p.I740fs

c.2218_2219fs

1 paper

NM_000212.3

p.W741*

c.2222G>A

1 paper

NM_000212.3

p.W741*

c.2223G>A

1 paper

NM_000212.3

p.L720P

c.2159T>C