Varaico: Literature-Extracted Genetic Variants

LDLR

2,667 papers

RefSeq Summary

The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. The encoded protein is normally bound at the ce...

Pfam Domains

Ldl_recept_aaa 25–63UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 66–104UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 107–143UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 146–184UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 195–231UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 234–270UCSCLow-density lipoprotein receptor domain class A

Gene Aliases

HGNC Name

low density lipoprotein receptor

HGNC Alias Symbol

LDLCQ2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_000527.5

p.D843fs

c.2527_2528fs

Surrounding Variants

1 paper

NM_000527.5

p.D843H

c.2527G>C

1 paper

NM_000527.5

p.D843_G844ins4

c.2527_2531ins12

3 papers

NM_000527.5

p.D843_G844Fs

c.2529_2530delinsAFs

7 papers

NM_000527.5

p.G844S

c.2530G>A

1 paper

NM_000527.5

p.N841K

c.2523C>A

1 paper

NM_000527.5

p.N841K

c.2523C>G

12 papers

NM_000527.5

p.G844D

c.2531G>A

1 paper

NM_000527.5

p.S846del1

c.2536_2538delAGC

1 paper

NM_000527.5

p.S846R

c.2536A>C

1 paper

NM_000527.5

p.H840N

c.2518C>A

2 papers

NM_000527.5

p.H840_N841insG

c.2518_2522ins3

1 paper

NM_000527.5

p.S846N

c.2537G>A