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.G98V

c.293G>T

Surrounding Variants

2 papers

NM_000527.5

p.G98D

c.293G>A

1 paper

NM_000527.5

p.G98A

c.293G>C

1 paper

NM_000527.5

p.G98insFs

c.293_294insC

2 papers

NM_000527.5

p.S99insFs

c.295_296insT

2 papers

NM_000527.5

p.G98G

c.294C>T

1 paper

NM_000527.5

p.S99del1

c.295_297delTCA

27 papers

NM_000527.5

p.G98S

c.292G>A

6 papers

NM_000527.5

p.G98R

c.292G>C

1 paper

NM_000527.5

p.G98C

c.292G>T

4 papers

NM_000527.5

p.N97K

c.291C>A

6 papers

NM_000527.5

p.N97K

c.291C>G

2 papers

NM_000527.5

p.N97N

c.291C>T