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.P826_V827insFs

c.2478_2479insC

Surrounding Variants

1 paper

NM_000527.5

p.N825T

c.2474A>C

1 paper

NM_000527.5

p.N825I

c.2474A>T

8 papers

NM_000527.5

p.P826delFs

c.2478delC

3 papers

NM_000527.5

p.N825D

c.2473A>G

1 paper

NM_000527.5

p.P826_T831delFs

c.2477_2493del17

30 papers

NM_000527.5

p.N825K

c.2475C>A

27 papers

NM_000527.5

p.N825K

c.2475C>G

5 papers

NM_000527.5

p.P826T

c.2476C>A

3 papers

NM_000527.5

p.P826S

c.2476C>T

1 paper

NM_000527.5

p.D824D

c.2472C>T

1 paper

NM_000527.5

p.P826fs

c.2476_2477fs

1 paper

NM_000527.5

p.V827delFs

c.2479delG