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.P685delFs

c.2054delC

Surrounding Variants

10 papers

NM_000527.5

p.A684T

c.2050G>A

4 papers

NM_000527.5

p.A684P

c.2050G>C

1 paper

NM_000527.5

p.P685insFs

c.2054dupC

1 paper

NM_000527.5

p.A684fs

c.2050_2051fs

4 papers

NM_000527.5

p.A684S

c.2050G>T

1 paper

NM_000527.5

p.A684fs

c.2050_2051fs

1 paper

NM_000527.5

p.P685_P689delFs

c.2055_2067del13

2 papers

NM_000527.5

p.P685_H690delFs

c.2055_2068del14

4 papers

NM_000527.5

p.A684_N688delFs

c.2050_2063del14

3 papers

NM_000527.5

p.P683L

c.2048C>T

1 paper

NM_000527.5

p.A684A

c.2052C>T

5 papers

NM_000527.5

p.P685T

c.2053C>A