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.W44C

c.132G>T

Surrounding Variants

32 papers

NM_000527.5

p.W44*

c.132G>A

3 papers

NM_000527.5

p.W44C

c.132G>C

1 paper

NM_000527.5

p.V45delFs

c.133_134delGT

37 papers

NM_000527.5

p.W44*

c.131G>A

1 paper

NM_000527.5

p.V45I

c.133G>A

1 paper

NM_000527.5

p.W44S

c.131G>C

1 paper

NM_000527.5

p.V45L

c.133G>C

1 paper

NM_000527.5

p.V45fs

c.133_134fs

3 papers

NM_000527.5

p.V45F

c.133G>T

2 papers

NM_000527.5

p.W44L

c.131G>T

2 papers

NM_000527.5

p.W44R

c.130T>A

2 papers

NM_000527.5

p.V45D

c.134T>A