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

11 papers

NM_002332.3

p.G2546S

c.7636G>A

Surrounding Variants

1 paper

NM_002332.3

p.G2546D

c.7637G>A

1 paper

NM_002332.3

p.P2548L

c.7643C>T

1 paper

NM_002332.3

p.R2525G

c.7573C>G

1 paper

NM_002332.3

p.S2522F

c.7565C>T

1 paper

NM_002332.3

p.N2562Splc

c.7685-2A>T

1 paper

NM_002332.3

p.S2563F

c.7688C>T

1 paper

NM_002332.3

p.R2564H

c.7691G>A

1 paper

NM_002332.3

p.Q2572H

c.7716G>C

1 paper

NM_002332.3

p.Q2572H

c.7716G>T

1 paper

NM_002332.3

p.P2481A

c.7441C>G

1 paper

NM_002332.3

p.L2479_S2480delFs

c.7435_7438del4

1 paper

NM_002332.3

p.L2479_S2480del2

c.7435_7439del6