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.A204S

c.610G>T

Surrounding Variants

1 paper

NM_002332.3

p.L202F

c.606G>T

1 paper

NM_002332.3

p.D196N

c.586G>A

1 paper

NM_002332.3

p.S215N

c.644G>A

15 papers

NM_002332.3

p.A217V

c.650C>T

1 paper

NM_002332.3

p.V219M

c.655G>A

1 paper

NM_002332.3

p.S220T

c.658T>A

13 papers

NM_002332.3

p.T221T

c.663C>T

1 paper

NM_002332.3

p.P224A

c.670C>G

2 papers

NM_002332.3

p.T225S

c.673A>T

1 paper

NM_002332.3

p.T225M

c.674C>T

2 papers

NM_002332.3

p.T227M

c.680C>T

1 paper

NM_002332.3

p.Q229K

c.685C>A