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.S768P

c.2302T>C

Surrounding Variants

2 papers

NM_000527.5

p.S768F

c.2303C>T

1 paper

NM_000527.5

p.M767I

c.2301G>A

1 paper

NM_000527.5

p.M767I

c.2301G>C

1 paper

NM_000527.5

p.M767I

c.2301G>T

1 paper

NM_000527.5

p.M767T

c.2300T>C

2 papers

NM_000527.5

p.S768_H769insFs

c.2304_2305insC

2 papers

NM_000527.5

p.M767_S768insC

c.2299_2303ins3

2 papers

NM_000527.5

p.M767V

c.2299A>G

2 papers

NM_000527.5

p.H769Y

c.2305C>T

1 paper

NM_000527.5

p.T766_M767insFs

c.2298_2299insC

1 paper

NM_000527.5

p.H769R

c.2306A>G

1 paper

NM_000527.5

p.H769Q

c.2307C>A