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.G248A

c.743G>C

Surrounding Variants

1 paper

NM_002213.5

p.G248R

c.742G>C

1 paper

NM_002213.5

p.G248R

c.742G>A

1 paper

NM_002213.5

p.R243*

c.727C>T

1 paper

NM_002213.5

p.R241W

c.721C>T

1 paper

NM_002213.5

p.D225_R238delFs

c.675_714del40

1 paper

NM_002213.5

p.V258I

c.772G>A

1 paper

NM_002213.5

p.R235W

c.703C>T

2 papers

NM_002213.5

p.T224_V234ins3

c.672_701dup30

1 paper

NM_002213.5

p.R226T

c.677G>C

1 paper

NM_002213.5

p.H219L

c.656A>T

1 paper

NM_002213.5

p.H219D

c.655C>G

1 paper

NM_002213.5

p.R218H

c.653G>A