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

2 papers

NM_002211.4

p.E453Q

c.1357G>C

Surrounding Variants

1 paper

NM_002211.4

p.V454A

c.1361T>C

2 papers

NM_002211.4

p.T451M

c.1352C>T

1 paper

NM_002211.4

p.R446R

c.1338G>A

1 paper

NM_002211.4

p.F443S

c.1328T>C

1 paper

NM_002211.4

p.C464R

c.1390T>C

1 paper

NM_002211.4

p.D441D

c.1323C>T

2 papers

NM_002211.4

p.D441N

c.1321G>A

1 paper

NM_002211.4

p.C466R

c.1396T>C

1 paper

NM_002211.4

p.C466Y

c.1397G>A

1 paper

NM_002211.4

p.S429I

c.1286G>T

2 papers

NM_002211.4

p.E479K

c.1435G>A

1 paper

NM_002211.4

p.F426L

c.1278T>G