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

1 paper

NM_000527.5

p.R78P

c.233G>C

Surrounding Variants

9 papers

NM_000527.5

p.R78H

c.233G>A

1 paper

NM_000527.5

p.R78Fs

c.233delinsACAFs

2 papers

NM_000527.5

p.R78L

c.233G>T

1 paper

NM_000527.5

p.R78fs

c.232_233fs

1 paper

NM_000527.5

p.R78G

c.232C>G

19 papers

NM_000527.5

p.R78C

c.232C>T

4 papers

NM_000527.5

p.R78delFs

c.233delG

3 papers

NM_000527.5

p.R78fs

c.232_233fs

2 papers

NM_000527.5

p.R78R

c.234T>G

2 papers

NM_000527.5

p.R78_V79insFs

c.234_235insG

3 papers

NM_000527.5

p.G77G

c.231C>G

1 paper

NM_000527.5

p.V79L

c.235G>C