Varaico: Literature-Extracted Genetic Variants

ITGB5

83 papers

RefSeq Summary

This gene encodes a beta subunit of integrin, which can combine with different alpha chains to form a variety of integrin heterodimers. Integrins are integral cell-surface receptors that participate i...

Pfam Domains

PSI_integrinaa 26–76UCSCIntegrin plexin domain

Integrin_betaaa 133–382UCSCIntegrin beta chain VWA domain

I-EGF_1aa 465–493UCSCIntegrin beta epidermal growth factor like domain 1

EGF_integrinaa 507–549UCSCIntegrin EGF domain

Integrin_B_tailaa 633–718UCSCIntegrin beta tail domain

Integrin_b_cytaa 743–783UCSCIntegrin beta cytoplasmic domain

Gene Aliases

HGNC Name

integrin subunit beta 5

HGNC Previous Name

integrin, beta 5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002213.5

p.R514W

c.1540C>T

Surrounding Variants

1 paper

NM_002213.5

p.E515G

c.1544A>G

1 paper

NM_002213.5

p.Q510*

c.1528C>T

1 paper

NM_002213.5

p.S523G

c.1567A>G

1 paper

NM_002213.5

p.G524R

c.1570G>C

1 paper

NM_002213.5

p.G524R

c.1570G>A

1 paper

NM_002213.5

p.R525C

c.1573C>T

3 papers

NM_002213.5

p.R525H

c.1574G>A

1 paper

NM_002213.5

p.G492V

c.1475G>T

1 paper

NM_002213.5

p.G492R

c.1474G>C

2 papers

NM_002213.5

p.S538G

c.1612A>G

1 paper

NM_002213.5

p.E488V

c.1463A>T

1 paper

NM_002213.5

p.G541S

c.1621G>A