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

5 papers

NM_000212.3

p.R169*

c.505C>T

Surrounding Variants

11 papers

NM_000212.3

p.R169Q

c.506G>A

1 paper

NM_000212.3

p.L171F

c.511C>T

3 papers

NM_000212.3

p.T166I

c.497C>T

1 paper

NM_000212.3

p.T166A

c.496A>G

1 paper

NM_000212.3

p.T172S

c.515C>G

1 paper

NM_000212.3

p.T172T

c.516C>T

1 paper

NM_000212.3

p.S173G

c.517A>G

1 paper

NM_000212.3

p.N174D

c.520A>G

4 papers

NM_000212.3

p.K163Q

c.487A>C

1 paper

NM_000212.3

p.I177I

c.531T>A

1 paper

NM_000212.3

p.L160L

c.478C>T

1 paper

NM_000212.3

p.F179S

c.536T>C