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.V4136G

c.12407T>G

Surrounding Variants

1 paper

NM_002332.3

p.D4135D

c.12405C>T

1 paper

NM_002332.3

p.L4126L

c.12376C>T

1 paper

NM_002332.3

p.H4116Y

c.12346C>T

1 paper

NM_002332.3

p.R4153H

c.12458G>A

1 paper

NM_002332.3

p.C4160G

c.12478T>G

1 paper

NM_002332.3

p.S4163G

c.12487A>G

1 paper

NM_002332.3

p.S4165G

c.12493A>G

2 papers

NM_002332.3

p.V4183G

c.12548T>G

1 paper

NM_002332.3

p.T4189fs

c.12565_12566fs

5 papers

NM_002332.3

p.P4192insFs

c.12575dupC

1 paper

NM_002332.3

p.T4189_P4190insFs

c.12567_12568insCC

1 paper

NM_002332.3

p.P4190delFs

c.12568delC