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.E381G

c.1142A>G

Surrounding Variants

1 paper

NM_000527.5

p.E381V

c.1142A>T

1 paper

NM_000527.5

p.E381*

c.1141G>T

1 paper

NM_000527.5

p.E380A

c.1139A>C

3 papers

NM_000527.5

p.E380G

c.1139A>G

12 papers

NM_000527.5

p.G382V

c.1145G>T

1 paper

NM_000527.5

p.E380Q

c.1138G>C

1 paper

NM_000527.5

p.F383L

c.1147T>C

2 papers

NM_000527.5

p.F383V

c.1147T>G

2 papers

NM_000527.5

p.E380delFs

c.1138delG

9 papers

NM_000527.5

p.C379Y

c.1136G>A

2 papers

NM_000527.5

p.F383S

c.1148T>C

3 papers

NM_000527.5

p.Q384_P387del0

c.1151_1159del9