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

1–12 of 823 variants

36 papers

NM_002332.3

p.L256F

c.766C>T

15 papers

NM_002332.3

p.A217V

c.650C>T

13 papers

NM_002332.3

p.T221T

c.663C>T

13 papers

NM_002332.3

p.D2080N

c.6238G>A

12 papers

NM_002332.3

p.R1993W

c.5977C>T

11 papers

NM_002332.3

p.G2546S

c.7636G>A

10 papers

NM_002332.3

p.Y4054F

c.12161A>T

7 papers

NM_002332.3

p.L9V

c.25C>G

7 papers

NM_002332.3

p.Q2900P

c.8699A>C

6 papers

NM_002332.3

p.G4379S

c.13135G>A

5 papers

NM_002332.3

p.A775P

c.2323G>C

5 papers

NM_002332.3

p.G1215E

c.3644G>A