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

1–12 of 203 variants

4 papers

NM_002213.5

p.E80Q

c.238G>C

4 papers

NM_002213.5

p.K789_K792del0

c.2367_2375del9

3 papers

NM_002213.5

p.R58W

c.172C>T

3 papers

NM_002213.5

p.G478R

c.1432G>C

3 papers

NM_002213.5

p.G478R

c.1432G>A

3 papers

NM_002213.5

p.R525H

c.1574G>A

3 papers

NM_002213.5

p.T616M

c.1847C>T

2 papers

NM_002213.5

p.C49Y

c.146G>A

2 papers

NM_002213.5

p.D65N

c.193G>A

2 papers

NM_002213.5

p.L94V

c.280C>G

2 papers

NM_002213.5

p.R119W

c.355C>T

2 papers

NM_002213.5

p.T224_V234ins3

c.672_701dup30