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.R240H

c.719G>A

Surrounding Variants

1 paper

NM_002211.4

p.Q239H

c.717G>T

1 paper

NM_002211.4

p.Q239H

c.717G>C

1 paper

NM_002211.4

p.S242F

c.725C>T

1 paper

NM_002211.4

p.V236F

c.706G>T

1 paper

NM_002211.4

p.G250C

c.748G>T

1 paper

NM_002211.4

p.G250S

c.748G>A

1 paper

NM_002211.4

p.G229del1

c.685_686delTCC

1 paper

NM_002211.4

p.T226insFs

c.676_677insC

1 paper

NM_002211.4

p.L223P

c.668T>C

1 paper

NM_002211.4

p.A259T

c.775G>A

2 papers

NM_002211.4

p.Y219H

c.655T>C

1 paper

NM_002211.4

p.S218delFs

c.653delC