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

3 papers

NM_000212.3

p.G247D

c.740G>A

Surrounding Variants

1 paper

NM_000212.3

p.D250N

c.748G>A

1 paper

NM_000212.3

p.A244T

c.730G>A

3 papers

NM_000212.3

p.D243V

c.728A>T

2 papers

NM_000212.3

p.D243H

c.727G>C

3 papers

NM_000212.3

p.I252V

c.754A>G

2 papers

NM_000212.3

p.I252F

c.754A>T

6 papers

NM_000212.3

p.R242Q

c.725G>A

4 papers

NM_000212.3

p.R242*

c.724C>T

1 paper

NM_000212.3

p.Q254K

c.760C>A

9 papers

NM_000212.3

p.R240Q

c.719G>A

6 papers

NM_000212.3

p.R240W

c.718C>T

2 papers

NM_000212.3

p.S239S

c.717A>G