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

69 papers

NM_000212.3

p.L59P

c.176T>C

Surrounding Variants

2 papers

NM_000212.3

p.L59V

c.175C>G

1 paper

NM_000212.3

p.P58L

c.173C>T

2 papers

NM_000212.3

p.G60G

c.180C>T

1 paper

NM_000212.3

p.S61P

c.181T>C

6 papers

NM_000212.3

p.R63C

c.187C>T

1 paper

NM_000212.3

p.E55_A56Splc

c.166-1G>A

1 paper

NM_000212.3

p.E55_A56Splc

c.166-2A>G

3 papers

NM_000212.3

p.C64Y

c.191G>A

2 papers

NM_000212.3

p.D65N

c.193G>A

4 papers

NM_000212.3

p.L66L

c.196C>T

10 papers

NM_000212.3

p.L66R

c.197T>G

1 paper

NM_000212.3

p.L66L

c.198G>A