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.V2652M

c.7954G>A

Surrounding Variants

1 paper

NM_002332.3

p.G2654G

c.7962C>T

1 paper

NM_002332.3

p.R2662Q

c.7985G>A

1 paper

NM_002332.3

p.D2674del1

c.8020_8021delGAT

1 paper

NM_002332.3

p.R2686C

c.8056C>T

1 paper

NM_002332.3

p.R2686H

c.8057G>A

1 paper

NM_002332.3

p.G2690D

c.8069G>A

1 paper

NM_002332.3

p.G2690D

c.8069G>A

1 paper

NM_002332.3

p.R2693C

c.8077C>T

1 paper

NM_002332.3

p.P2694L

c.8081C>T

1 paper

NM_002332.3

p.F2701F

c.8103C>T

1 paper

NM_002332.3

p.A2702T

c.8104G>A

1 paper

NM_002332.3

p.C2703W

c.8109C>G