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

2 papers

NM_000527.5

p.A348insFs

c.1042_1043insA

Surrounding Variants

2 papers

NM_000527.5

p.A348T

c.1042G>A

5 papers

NM_000527.5

p.Q349delFs

c.1045delC

1 paper

NM_000527.5

p.A348fs

c.1042_1043fs

1 paper

NM_000527.5

p.A348V

c.1043C>T

1 paper

NM_000527.5

p.V347A

c.1040T>C

2 papers

NM_000527.5

p.A348delFs

c.1042delG

1 paper

NM_000527.5

p.Q349K

c.1045C>A

4 papers

NM_000527.5

p.Q349*

c.1045C>T

2 papers

NM_000527.5

p.Q349fs

c.1045_1046fs

1 paper

NM_000527.5

p.V347M

c.1039G>A

2 papers

NM_000527.5

p.R351_D354insFs

c.1053_1060dup8

1 paper

NM_000527.5

p.Q349R

c.1046A>G