Varaico: Literature-Extracted Genetic Variants

LRP1

775 papers

RefSeq Summary

This gene encodes a member of the low-density lipoprotein receptor family of proteins. The encoded preproprotein is proteolytically processed by furin to generate 515 kDa and 85 kDa subunits that form...

Pfam Domains

Ldl_recept_aaa 25–64UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 70–108UCSCLow-density lipoprotein receptor domain class A

EGF_CAaa 150–188UCSCCalcium-binding EGF domain

Ldl_recept_baa 614–657UCSCLow-density lipoprotein receptor repeat class B

Ldl_recept_baa 660–708UCSCLow-density lipoprotein receptor repeat class B

FXa_inhibitionaa 807–842UCSCCoagulation Factor Xa inhibitory site

Gene Aliases

HGNC Name

LDL receptor related protein 1

HGNC Previous Symbols

APR; A2MR

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002332.3

p.R2037W

c.6109C>T

Surrounding Variants

1 paper

NM_002332.3

p.R2043H

c.6128G>A

1 paper

NM_002332.3

p.Y2030F

c.6089A>T

1 paper

NM_002332.3

p.W2027C

c.6081G>C

1 paper

NM_002332.3

p.W2027C

c.6081G>T

1 paper

NM_002332.3

p.N2048S

c.6143A>G

1 paper

NM_002332.3

p.L2022F

c.6066G>C

1 paper

NM_002332.3

p.L2022F

c.6066G>T

1 paper

NM_002332.3

p.V2015F

c.6043G>T

1 paper

NM_002332.3

p.R1999H

c.5996G>A

1 paper

NM_002332.3

p.F1998I

c.5992T>A

12 papers

NM_002332.3

p.R1993W

c.5977C>T

1 paper

NM_002332.3

p.A1992T

c.5974G>A