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.P43T

c.127C>A

Surrounding Variants

2 papers

NM_002211.4

p.P43Q

c.128C>A

2 papers

NM_002211.4

p.Q40*

c.118C>T

1 paper

NM_002211.4

p.A41_C45del5

c.121_134del15

1 paper

NM_002211.4

p.W47*

c.140G>A

1 paper

NM_002211.4

p.W47*

c.141G>A

1 paper

NM_002211.4

p.C48Y

c.143G>A

1 paper

NM_002211.4

p.G36R

c.106G>C

1 paper

NM_002211.4

p.G36R

c.106G>A

1 paper

NM_002211.4

p.L28L

c.84A>G

1 paper

NM_002211.4

p.D23E

c.69T>A

1 paper

NM_002211.4

p.D23Splc

c.68-1G>A

1 paper

NM_002211.4

p.T52I

c.155C>T