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.V187A

c.560T>C

Surrounding Variants

1 paper

NM_000212.3

p.S188T

c.562T>A

1 paper

NM_000212.3

p.V187delFs

c.559delG

3 papers

NM_000212.3

p.P186L

c.557C>T

3 papers

NM_000212.3

p.S188L

c.563C>T

12 papers

NM_000212.3

p.P189S

c.565C>T

1 paper

NM_000212.3

p.K185R

c.554A>G

1 paper

NM_000212.3

p.P189L

c.566C>T

1 paper

NM_000212.3

p.P189delFs

c.567delA

1 paper

NM_000212.3

p.Y190fs

c.568_569fs

1 paper

NM_000212.3

p.Y190C

c.569A>G

1 paper

NM_000212.3

p.Y190*

c.570C>A

1 paper

NM_000212.3

p.Y190*

c.570C>G