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.S158Y

c.473C>A

Surrounding Variants

6 papers

NM_000527.5

p.S158C

c.473C>G

6 papers

NM_000527.5

p.S158F

c.473C>T

2 papers

NM_000527.5

p.S158P

c.472T>C

1 paper

NM_000527.5

p.S158A

c.472T>G

1 paper

NM_000527.5

p.S158fs

c.472_473fs

1 paper

NM_000527.5

p.T159A

c.475A>G

1 paper

NM_000527.5

p.C160_P162del0

c.478_486del9

2 papers

NM_000527.5

p.S157R

c.471C>A

1 paper

NM_000527.5

p.S157R

c.471C>G

4 papers

NM_000527.5

p.S158delFs

c.472delT

2 papers

NM_000527.5

p.T159I

c.476C>T

1 paper

NM_000527.5

p.C160_L164delFs

c.480_492del13