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.V247F

c.739G>T

Surrounding Variants

1 paper

NM_002332.3

p.G248R

c.742G>A

1 paper

NM_002332.3

p.G248R

c.742G>C

1 paper

NM_002332.3

p.C243C

c.729C>T

1 paper

NM_002332.3

p.V242L

c.724G>C

1 paper

NM_002332.3

p.Q255E

c.763C>G

1 paper

NM_002332.3

p.Q255*

c.763C>T

36 papers

NM_002332.3

p.L256F

c.766C>T

1 paper

NM_002332.3

p.K257T

c.770A>C

1 paper

NM_002332.3

p.D234H

c.700G>C

1 paper

NM_002332.3

p.R260H

c.779G>A

1 paper

NM_002332.3

p.M233L

c.697A>C

1 paper

NM_002332.3

p.M233V

c.697A>G