Varaico: Literature-Extracted Genetic Variants

ITGB1

227 papers

RefSeq Summary

Integrins are heterodimeric proteins made up of alpha and beta subunits. At least 18 alpha and 8 beta subunits have been described in mammals. Integrin family members are membrane receptors involved i...

Pfam Domains

PSI_integrinaa 25–76UCSCIntegrin plexin domain

Integrin_betaaa 138–382UCSCIntegrin beta chain VWA domain

I-EGF_1aa 466–495UCSCIntegrin beta epidermal growth factor like domain 1

EGF_integrinaa 510–554UCSCIntegrin EGF domain

EGF_2aa 599–630UCSCEGF-like domain

Integrin_B_tailaa 638–727UCSCIntegrin beta tail domain

Gene Aliases

HGNC Name

integrin subunit beta 1

HGNC Previous Symbols

FNRB; MSK12; MDF2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002211.4

p.T60A

c.178A>G

Surrounding Variants

1 paper

NM_002211.4

p.T60I

c.179C>T

1 paper

NM_002211.4

p.P59L

c.176C>T

1 paper

NM_002211.4

p.S61Y

c.182C>A

1 paper

NM_002211.4

p.R63Q

c.188G>A

1 paper

NM_002211.4

p.C64G

c.190T>G

1 paper

NM_002211.4

p.D65N

c.193G>A

1 paper

NM_002211.4

p.D66Y

c.196G>T

1 paper

NM_002211.4

p.D66N

c.196G>A

2 papers

NM_002211.4

p.F53I

c.157T>A

1 paper

NM_002211.4

p.T52I

c.155C>T

1 paper

NM_002211.4

p.T52K

c.155C>A

1 paper

NM_002211.4

p.A69T

c.205G>A