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

43 papers

NM_000212.3

p.S269S

c.807C>T

Surrounding Variants

2 papers

NM_000212.3

p.S269F

c.806C>T

1 paper

NM_000212.3

p.L271S

c.812T>C

1 paper

NM_000212.3

p.L272M

c.814C>A

1 paper

NM_000212.3

p.D267N

c.799G>A

1 paper

NM_000212.3

p.N266K

c.798T>A

1 paper

NM_000212.3

p.N266K

c.798T>G

1 paper

NM_000212.3

p.R265W

c.793A>T

2 papers

NM_000212.3

p.W264*

c.792G>A

2 papers

NM_000212.3

p.W264*

c.791G>A

4 papers

NM_000212.3

p.T275T

c.825C>T

1 paper

NM_000212.3

p.T276_D277insFs

c.828_829insT

2 papers

NM_000212.3

p.I262I

c.786T>C