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.V233A

c.698T>C

Surrounding Variants

1 paper

NM_000212.3

p.K235K

c.705G>A

1 paper

NM_000212.3

p.Q236*

c.706C>T

2 papers

NM_000212.3

p.S237delFs

c.709_710delAG

1 paper

NM_000212.3

p.N230H

c.688A>C

1 paper

NM_000212.3

p.S237fs

c.709_710fs

1 paper

NM_000212.3

p.S237G

c.709A>G

1 paper

NM_000212.3

p.S237fs

c.709_710fs

1 paper

NM_000212.3

p.F229L

c.687C>A

1 paper

NM_000212.3

p.F229L

c.687C>G

2 papers

NM_000212.3

p.F229L

c.685T>C

1 paper

NM_000212.3

p.V238M

c.712G>A

3 papers

NM_000212.3

p.R228H

c.683G>A