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.V457F

c.1369G>T

Surrounding Variants

1 paper

NM_002213.5

p.C463*

c.1389C>A

2 papers

NM_002213.5

p.R450W

c.1348C>T

1 paper

NM_002213.5

p.F449Y

c.1346T>A

1 paper

NM_002213.5

p.V467M

c.1399G>A

1 paper

NM_002213.5

p.V447M

c.1339G>A

1 paper

NM_002213.5

p.P446L

c.1337C>T

1 paper

NM_002213.5

p.H437P

c.1310A>C

2 papers

NM_002213.5

p.N477S

c.1430A>G

3 papers

NM_002213.5

p.G478R

c.1432G>C

3 papers

NM_002213.5

p.G478R

c.1432G>A

1 paper

NM_002213.5

p.G480R

c.1438G>C

1 paper

NM_002213.5

p.G480R

c.1438G>A