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

2 papers

NM_002332.3

p.S4251C

c.12752C>G

Surrounding Variants

1 paper

NM_002332.3

p.G4252A

c.12755G>C

1 paper

NM_002332.3

p.C4246S

c.12737G>C

1 paper

NM_002332.3

p.C4246S

c.12736T>A

1 paper

NM_002332.3

p.N4213S

c.12638A>G

1 paper

NM_002332.3

p.C4210F

c.12629G>T

1 paper

NM_002332.3

p.N4206D

c.12616A>G

1 paper

NM_002332.3

p.Q4203L

c.12608A>T

1 paper

NM_002332.3

p.R4257Q

c.12770G>A

1 paper

NM_002332.3

p.T4260T

c.12780G>A

1 paper

NM_002332.3

p.A4273E

c.12818C>A

1 paper

NM_002332.3

p.D4193fs

c.12577_12578fs

3 papers

NM_002332.3

p.D4193fs

c.12577_12578fs