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

4 papers

NM_002211.4

p.L378I

c.1132C>A

Surrounding Variants

1 paper

NM_002211.4

p.S390L

c.1169C>T

1 paper

NM_002211.4

p.E391G

c.1172A>G

1 paper

NM_002211.4

p.S396N

c.1187G>A

1 paper

NM_002211.4

p.Y400S

c.1199A>C

1 paper

NM_002211.4

p.C401F

c.1202G>T

1 paper

NM_002211.4

p.N403T

c.1208A>C

1 paper

NM_002211.4

p.G404W

c.1210G>T

1 paper

NM_002211.4

p.G404R

c.1210G>C

1 paper

NM_002211.4

p.G404R

c.1210G>A

1 paper

NM_002211.4

p.S416F

c.1247C>T

1 paper

NM_002211.4

p.V424A

c.1271T>C

2 papers

NM_002211.4

p.Q425P

c.1274A>C