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.R788G

c.2362A>G

Surrounding Variants

1 paper

NM_000527.5

p.R788W

c.2362A>T

1 paper

NM_000527.5

p.V787V

c.2361G>A

2 papers

NM_000527.5

p.V787E

c.2360T>A

1 paper

NM_000527.5

p.V787A

c.2360T>C

1 paper

NM_000527.5

p.V787M

c.2359G>A

1 paper

NM_000527.5

p.A789T

c.2365G>A

4 papers

NM_000527.5

p.A789D

c.2366C>A

1 paper

NM_000527.5

p.S786S

c.2358C>T

3 papers

NM_000527.5

p.S786G

c.2356A>G

3 papers

NM_000527.5

p.S786C

c.2356A>T

1 paper

NM_000527.5

p.S785R

c.2355T>A

1 paper

NM_000527.5

p.L790P

c.2369T>C