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.Y141C

c.422A>G

Surrounding Variants

2 papers

NM_000212.3

p.Y142S

c.425A>C

1 paper

NM_000212.3

p.D139E

c.417C>A

1 paper

NM_000212.3

p.D139E

c.417C>G

1 paper

NM_000212.3

p.L143S

c.428T>C

9 papers

NM_000212.3

p.L143W

c.428T>G

3 papers

NM_000212.3

p.D139H

c.415G>C

1 paper

NM_000212.3

p.L143F

c.429G>C

1 paper

NM_000212.3

p.L143F

c.429G>T

6 papers

NM_000212.3

p.M144R

c.431T>G

1 paper

NM_000212.3

p.V138G

c.413T>G

1 paper

NM_000212.3

p.V138M

c.412G>A

1 paper

NM_000212.3

p.M144I

c.432G>A