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.I1204T

c.3611T>C

Surrounding Variants

2 papers

NM_002332.3

p.C1208C

c.3624C>T

1 paper

NM_002332.3

p.L1210V

c.3628C>G

1 paper

NM_002332.3

p.G1211D

c.3632G>A

1 paper

NM_002332.3

p.S1197A

c.3589T>G

1 paper

NM_002332.3

p.M1212L

c.3634A>T

5 papers

NM_002332.3

p.G1215E

c.3644G>A

1 paper

NM_002332.3

p.G1190D

c.3569G>A

1 paper

NM_002332.3

p.C1185F

c.3554G>T

1 paper

NM_002332.3

p.K1236N

c.3708G>C

1 paper

NM_002332.3

p.K1236N

c.3708G>T

2 papers

NM_002332.3

p.K1245R

c.3734A>G

1 paper

NM_002332.3

p.D1257E

c.3771C>A