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.E2082Q

c.6244G>C

Surrounding Variants

13 papers

NM_002332.3

p.D2080N

c.6238G>A

1 paper

NM_002332.3

p.R2078W

c.6232C>T

1 paper

NM_002332.3

p.R2087R

c.6261C>T

1 paper

NM_002332.3

p.K2075K

c.6225G>A

1 paper

NM_002332.3

p.E2105Q

c.6313G>C

1 paper

NM_002332.3

p.E2105*

c.6313G>T

1 paper

NM_002332.3

p.D2106Y

c.6316G>T

1 paper

NM_002332.3

p.W2110*

c.6329G>A

1 paper

NM_002332.3

p.W2110*

c.6330G>A

1 paper

NM_002332.3

p.G2118S

c.6352G>A

3 papers

NM_002332.3

p.T2129K

c.6386C>A

1 paper

NM_002332.3

p.S2131F

c.6392C>T