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

2 papers

NM_002213.5

p.D65N

c.193G>A

Surrounding Variants

1 paper

NM_002213.5

p.C64R

c.190T>C

1 paper

NM_002213.5

p.R63L

c.188G>T

1 paper

NM_002213.5

p.I60I

c.180C>A

1 paper

NM_002213.5

p.R58_S59ins0

c.173_175dupGGT

3 papers

NM_002213.5

p.R58W

c.172C>T

1 paper

NM_002213.5

p.G74A

c.221G>C

1 paper

NM_002213.5

p.C75Y

c.224G>A

1 paper

NM_002213.5

p.I79T

c.236T>C

4 papers

NM_002213.5

p.E80Q

c.238G>C

1 paper

NM_002213.5

p.P82A

c.244C>G

2 papers

NM_002213.5

p.L94V

c.280C>G

1 paper

NM_002213.5

p.Q112R

c.335A>G