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.A47S

c.139G>T

Surrounding Variants

1 paper

NM_002213.5

p.W48*

c.144G>A

2 papers

NM_002213.5

p.C49Y

c.146G>A

1 paper

NM_002213.5

p.E52_D53Splc

c.156+2T>G

1 paper

NM_002213.5

p.L40V

c.118C>G

1 paper

NM_002213.5

p.C36R

c.106T>C

1 paper

NM_002213.5

p.S35A

c.103T>G

1 paper

NM_002213.5

p.S32R

c.96T>G

1 paper

NM_002213.5

p.S32R

c.96T>A

1 paper

NM_002213.5

p.S32R

c.94A>C