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

10 papers

NM_000527.5

p.C255*

c.765T>A

Surrounding Variants

1 paper

NM_000527.5

p.C255C

c.765T>C

4 papers

NM_000527.5

p.C255W

c.765T>G

1 paper

NM_000527.5

p.D256_M264del9

c.766_791del27

6 papers

NM_000527.5

p.C255Y

c.764G>A

4 papers

NM_000527.5

p.C255S

c.764G>C

1 paper

NM_000527.5

p.C255F

c.764G>T

2 papers

NM_000527.5

p.D256insFs

c.767_768insC

2 papers

NM_000527.5

p.D256G

c.767A>G

1 paper

NM_000527.5

p.R257_S265del9

c.769_794del27

4 papers

NM_000527.5

p.C255S

c.763T>A

14 papers

NM_000527.5

p.C255R

c.763T>C

6 papers

NM_000527.5

p.C255G

c.763T>G