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.G797V

c.2390G>T

Surrounding Variants

1 paper

NM_002211.4

p.G797E

c.2390G>A

5 papers

NM_002211.4

p.Y795F

c.2384A>T

1 paper

NM_002211.4

p.K794Q

c.2380A>C

1 paper

NM_002211.4

p.P793T

c.2377C>A

1 paper

NM_002211.4

p.N792N

c.2376T>C

2 papers

NM_002211.4

p.N792S

c.2375A>G

1 paper

NM_002211.4

p.T789I

c.2366C>T

3 papers

NM_002211.4

p.T789A

c.2365A>G

3 papers

NM_002211.4

p.T788A

c.2362A>G

1 paper

NM_002211.4

p.V787insFs

c.2360dupT

2 papers

NM_002211.4

p.S785fs

c.2353_2354fs

2 papers

NM_002211.4

p.S785C

c.2353A>T