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

10 papers

NM_002332.3

p.Y4054F

c.12161A>T

Surrounding Variants

1 paper

NM_002332.3

p.L4059Q

c.12176T>A

2 papers

NM_002332.3

p.L4074F

c.12220C>T

1 paper

NM_002332.3

p.G4076D

c.12227G>A

2 papers

NM_002332.3

p.T4077R

c.12230C>G

1 paper

NM_002332.3

p.R4087fs

c.12259_12260fs

1 paper

NM_002332.3

p.T4048I

c.12143C>T

1 paper

NM_002332.3

p.R4036W

c.12106C>T

1 paper

NM_002332.3

p.Y4016*

c.12048C>A

1 paper

NM_002332.3

p.Y4016*

c.12048C>G

1 paper

NM_002332.3

p.H4116Y

c.12346C>T

1 paper

NM_002332.3

p.L4126L

c.12376C>T

1 paper

NM_002332.3

p.D4135D

c.12405C>T