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

1–12 of 618 variants

69 papers

NM_000212.3

p.L59P

c.176T>C

43 papers

NM_000212.3

p.S269S

c.807C>T

25 papers

NM_000212.3

p.G564D

c.1691G>A

14 papers

NM_000212.3

p.C549R

c.1645T>C

13 papers

NM_000212.3

p.E654K

c.1960G>A

12 papers

NM_000212.3

p.P189S

c.565C>T

12 papers

NM_000212.3

p.R750*

c.2248C>T

11 papers

NM_000212.3

p.R169Q

c.506G>A

11 papers

NM_000212.3

p.L222P

c.665T>C

10 papers

NM_000212.3

p.L66R

c.197T>G

9 papers

NM_000212.3

p.L143W

c.428T>G

9 papers

NM_000212.3

p.R240Q

c.719G>A