Varaico: Literature-Extracted Genetic Variants

Gene:ITGB3
Variant:p.D591D

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.D591D
c.1773C>T
Surrounding Variants
1 paper
NM_000212.3
p.D591A
c.1772A>C
1 paper
NM_000212.3
p.D591H
c.1771G>C
1 paper
NM_000212.3
p.T592T
c.1776C>T
1 paper
NM_000212.3
p.T590A
c.1768A>G
1 paper
NM_000212.3
p.M594V
c.1780A>G
1 paper
NM_000212.3
p.S595fs
c.1783_1784fs
1 paper
NM_000212.3
p.T587T
c.1761C>T
1 paper
NM_000212.3
p.T587S
c.1760C>G
1 paper
NM_000212.3
p.T587S
c.1759A>T
1 paper
NM_000212.3
p.C586F
c.1757G>T
1 paper
NM_000212.3
p.N597delFs
c.1791delT
3 papers
NM_000212.3
p.C586R
c.1756T>C
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