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.D205fs

c.613_614fs

Surrounding Variants

1 paper

NM_000212.3

p.D205delFs

c.613_614delGA

1 paper

NM_000212.3

p.D205Splc

c.614+1G>T

1 paper

NM_000212.3

p.C203G

c.607T>G

1 paper

NM_000212.3

p.E200delFs

c.599delA

1 paper

NM_000212.3

p.D205Splc

c.614+15C>T

1 paper

NM_000212.3

p.L199P

c.596T>C

1 paper

NM_000212.3

p.L199I

c.595C>A

1 paper

NM_000212.3

p.A198V

c.593C>T

1 paper

NM_000212.3

p.P196T

c.586C>A

1 paper

NM_000212.3

p.Y192C

c.575A>G

1 paper

NM_000212.3

p.Y190*

c.570C>A

1 paper

NM_000212.3

p.Y190*

c.570C>G