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.E2920*

c.8758G>T

Surrounding Variants

1 paper

NM_002332.3

p.G2915_A2919delFs

c.8745_8755del11

1 paper

NM_002332.3

p.S2907S

c.8721G>A

2 papers

NM_002332.3

p.S2907L

c.8720C>T

2 papers

NM_002332.3

p.S2934L

c.8801C>T

1 paper

NM_002332.3

p.R2937C

c.8809C>T

1 paper

NM_002332.3

p.R2937H

c.8810G>A

1 paper

NM_002332.3

p.E2901Splc

c.8702-5C>T

1 paper

NM_002332.3

p.E2943K

c.8827G>A

2 papers

NM_002332.3

p.R2947C

c.8839C>T

1 paper

NM_002332.3

p.R2947H

c.8840G>A

1 paper

NM_002332.3

p.R2947L

c.8840G>T

7 papers

NM_002332.3

p.Q2900P

c.8699A>C