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.P632R

c.1895C>G

Surrounding Variants

1 paper

NM_002213.5

p.P632L

c.1895C>T

1 paper

NM_002213.5

p.P629S

c.1885C>T

1 paper

NM_002213.5

p.E626K

c.1876G>A

1 paper

NM_002213.5

p.G619E

c.1856G>A

1 paper

NM_002213.5

p.G619R

c.1855G>C

1 paper

NM_002213.5

p.G619R

c.1855G>A

1 paper

NM_002213.5

p.P618T

c.1852C>A

3 papers

NM_002213.5

p.T616M

c.1847C>T

1 paper

NM_002213.5

p.C602Y

c.1805G>A

1 paper

NM_002213.5

p.R597T

c.1790G>C

1 paper

NM_002213.5

p.G596D

c.1787G>A

1 paper

NM_002213.5

p.G582R

c.1744G>C