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

2 papers

NM_000212.3

p.G297R

c.889G>C

Surrounding Variants

2 papers

NM_000212.3

p.G297R

c.889G>A

3 papers

NM_000212.3

p.Q298*

c.892C>T

2 papers

NM_000212.3

p.D296N

c.886G>A

3 papers

NM_000212.3

p.Q298H

c.894G>T

1 paper

NM_000212.3

p.C299Y

c.896G>A

3 papers

NM_000212.3

p.P294P

c.882T>C

1 paper

NM_000212.3

p.P294R

c.881C>G

1 paper

NM_000212.3

p.Q293Q

c.879G>A

2 papers

NM_000212.3

p.Q293*

c.877C>T

1 paper

NM_000212.3

p.G302D

c.905G>A

1 paper

NM_000212.3

p.N305delFs

c.913delA

1 paper

NM_000212.3

p.N305fs

c.913_914fs