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

5 papers

NM_000527.5

p.P685T

c.2053C>A

Surrounding Variants

1 paper

NM_000527.5

p.P685fs

c.2053_2054fs

2 papers

NM_000527.5

p.P685A

c.2053C>G

7 papers

NM_000527.5

p.P685S

c.2053C>T

1 paper

NM_000527.5

p.P685fs

c.2053_2054fs

1 paper

NM_000527.5

p.P685Q

c.2054C>A

128 papers

NM_000527.5

p.P685L

c.2054C>T

1 paper

NM_000527.5

p.A684A

c.2052C>T

3 papers

NM_000527.5

p.P685delFs

c.2055delG

2 papers

NM_000527.5

p.Q686_P689del4

c.2056_2066del12

2 papers

NM_000527.5

p.Q686_H690delFs

c.2056_2068del13

1 paper

NM_000527.5

p.Q686E

c.2056C>G

6 papers

NM_000527.5

p.Q686*

c.2056C>T