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.T786_F787delFs

c.2358_2359delAG

Surrounding Variants

1 paper

NM_002213.5

p.F787V

c.2359T>G

1 paper

NM_002213.5

p.F787_K789delFs

c.2361_2367del7

1 paper

NM_002213.5

p.F790S

c.2369T>C

1 paper

NM_002213.5

p.N791Y

c.2371A>T

4 papers

NM_002213.5

p.K789_K792del0

c.2367_2375del9

1 paper

NM_002213.5

p.K789_K792del4

c.2365_2375del12

1 paper

NM_002213.5

p.Y794C

c.2381A>G

1 paper

NM_002213.5

p.I778_S779insFs

c.2332_2335dup4

1 paper

NM_002213.5

p.T797P

c.2389A>C

1 paper

NM_002213.5

p.P772A

c.2314C>G

1 paper

NM_002213.5

p.N771K

c.2313T>G

1 paper

NM_002213.5

p.N771K

c.2313T>A