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.G10R

c.28G>C

Surrounding Variants

1 paper

NM_002211.4

p.G10R

c.28G>A

1 paper

NM_002211.4

p.W8delFs

c.23delC

1 paper

NM_002211.4

p.W8*

c.24G>A

2 papers

NM_002211.4

p.I6V

c.16A>G

1 paper

NM_002211.4

p.S14_V15delFs

c.41_45del5

1 paper

NM_002211.4

p.N2D

c.4A>G

1 paper

NM_002211.4

p.M1ins2

c.1_2ins6

1 paper

NM_002211.4

p.A20V

c.59C>T

1 paper

NM_002211.4

p.T22I

c.65C>T

1 paper

NM_002211.4

p.D23Splc

c.68-1G>A

1 paper

NM_002211.4

p.D23E

c.69T>A

1 paper

NM_002211.4

p.L28L

c.84A>G