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.D121Splc

c.362-1G>A

Surrounding Variants

7 papers

NM_000212.3

p.S123P

c.367T>C

2 papers

NM_000212.3

p.S123L

c.368C>T

1 paper

NM_000212.3

p.K124*

c.370A>T

1 paper

NM_000212.3

p.I128S

c.383T>G

1 paper

NM_000212.3

p.Q129K

c.385C>A

2 papers

NM_000212.3

p.Q129R

c.386A>G

2 papers

NM_000212.3

p.D121Splc

c.362-30G>A

2 papers

NM_000212.3

p.R131W

c.391C>T

5 papers

NM_000212.3

p.R131P

c.392G>C

2 papers

NM_000212.3

p.Q132K

c.394C>A

1 paper

NM_000212.3

p.Q132R

c.395A>G

1 paper

NM_000212.3

p.Q132H

c.396G>C