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.Y795Y

c.2385T>C

Surrounding Variants

1 paper

NM_002332.3

p.R793*

c.2377C>T

2 papers

NM_002332.3

p.T780I

c.2339C>T

1 paper

NM_002332.3

p.P776fs

c.2326_2327fs

5 papers

NM_002332.3

p.A775P

c.2323G>C

1 paper

NM_002332.3

p.R770Q

c.2309G>A

3 papers

NM_002332.3

p.R770W

c.2308C>T

1 paper

NM_002332.3

p.R767H

c.2300G>A

1 paper

NM_002332.3

p.R767C

c.2299C>T

1 paper

NM_002332.3

p.L755F

c.2263C>T

1 paper

NM_002332.3

p.P740L

c.2219C>T

1 paper

NM_002332.3

p.V736L

c.2206G>C

1 paper

NM_002332.3

p.G803V

c.2408G>T