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.C4374S

c.13121G>C

Surrounding Variants

1 paper

NM_002332.3

p.C4374S

c.13120T>A

6 papers

NM_002332.3

p.G4379S

c.13135G>A

1 paper

NM_002332.3

p.G4368D

c.13103G>A

1 paper

NM_002332.3

p.S4386T

c.13156T>A

1 paper

NM_002332.3

p.N4364Splc

c.13092-65C>A

1 paper

NM_002332.3

p.N4364Splc

c.13091+35T>C

1 paper

NM_002332.3

p.V4354I

c.13060G>A

1 paper

NM_002332.3

p.A4351_C4352insFs

c.13053_13054insC

1 paper

NM_002332.3

p.S4345_R4346insFs

c.13035_13036insC

1 paper

NM_002332.3

p.G4405V

c.13214G>T

1 paper

NM_002332.3

p.C4408R

c.13222T>C

1 paper

NM_002332.3

p.R4329C

c.12985C>T