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.R1948Q

c.5843G>A

Surrounding Variants

1 paper

NM_002332.3

p.V1959M

c.5875G>A

1 paper

NM_002332.3

p.V1967M

c.5899G>A

1 paper

NM_002332.3

p.E1932Splc

c.5795-23C>T

1 paper

NM_002332.3

p.A1976T

c.5926G>A

1 paper

NM_002332.3

p.G1977Splc

c.5929+6C>A

1 paper

NM_002332.3

p.W1981*

c.5942G>A

2 papers

NM_002332.3

p.W1981L

c.5942G>T

1 paper

NM_002332.3

p.W1981*

c.5943G>A

1 paper

NM_002332.3

p.A1992T

c.5974G>A

12 papers

NM_002332.3

p.R1993W

c.5977C>T

1 paper

NM_002332.3

p.F1998I

c.5992T>A

1 paper

NM_002332.3

p.R1999H

c.5996G>A