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.L146M

c.436C>A

Surrounding Variants

2 papers

NM_000212.3

p.D145E

c.435C>A

1 paper

NM_000212.3

p.L146P

c.437T>C

1 paper

NM_000212.3

p.L146L

c.438G>A

7 papers

NM_000212.3

p.D145N

c.433G>A

7 papers

NM_000212.3

p.D145Y

c.433G>T

1 paper

NM_000212.3

p.M144I

c.432G>A

6 papers

NM_000212.3

p.M144R

c.431T>G

1 paper

NM_000212.3

p.L143F

c.429G>C

1 paper

NM_000212.3

p.L143F

c.429G>T

2 papers

NM_000212.3

p.Y148*

c.444C>A

2 papers

NM_000212.3

p.Y148*

c.444C>G

1 paper

NM_000212.3

p.L143S

c.428T>C