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.G74S

c.220G>A

Surrounding Variants

1 paper

NM_002211.4

p.K71I

c.212A>T

1 paper

NM_002211.4

p.A69T

c.205G>A

1 paper

NM_002211.4

p.I80L

c.238A>T

1 paper

NM_002211.4

p.I80L

c.238A>C

1 paper

NM_002211.4

p.I80T

c.239T>C

1 paper

NM_002211.4

p.E81A

c.242A>C

1 paper

NM_002211.4

p.D66Y

c.196G>T

1 paper

NM_002211.4

p.D66N

c.196G>A

1 paper

NM_002211.4

p.D65N

c.193G>A

1 paper

NM_002211.4

p.P83S

c.247C>T

1 paper

NM_002211.4

p.C64G

c.190T>G

1 paper

NM_002211.4

p.R84K

c.251G>A