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

6 papers

NM_000212.3

p.L744P

c.2231T>C

Surrounding Variants

1 paper

NM_000212.3

p.L743P

c.2228T>C

2 papers

NM_000212.3

p.T746del1

c.2236_2237delACC

2 papers

NM_000212.3

p.T746P

c.2236A>C

3 papers

NM_000212.3

p.L744del1

c.2230_2232delCTC

1 paper

NM_000212.3

p.W741*

c.2223G>A

1 paper

NM_000212.3

p.W741*

c.2222G>A

2 papers

NM_000212.3

p.H748P

c.2243A>C

1 paper

NM_000212.3

p.I740fs

c.2218_2219fs

1 paper

NM_000212.3

p.D749N

c.2245G>A

4 papers

NM_000212.3

p.D749H

c.2245G>C

1 paper

NM_000212.3

p.L739insFs

c.2216_2217ins4

2 papers

NM_000212.3

p.L739delFs

c.2217delC