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

1–12 of 225 variants

5 papers

NM_002211.4

p.Y795F

c.2384A>T

4 papers

NM_002211.4

p.L378I

c.1132C>A

4 papers

NM_002211.4

p.Y783F

c.2348A>T

3 papers

NM_002211.4

p.T788A

c.2362A>G

3 papers

NM_002211.4

p.T789A

c.2365A>G

2 papers

NM_002211.4

p.I6V

c.16A>G

2 papers

NM_002211.4

p.Q40*

c.118C>T

2 papers

NM_002211.4

p.P43Q

c.128C>A

2 papers

NM_002211.4

p.F53I

c.157T>A

2 papers

NM_002211.4

p.T198_T199insFs

c.594_595insC

2 papers

NM_002211.4

p.Y219H

c.655T>C

2 papers

NM_002211.4

p.Q425P

c.1274A>C