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

49 papers

NM_000527.5

p.P105Splc

c.313+1G>C

Surrounding Variants

1 paper

NM_000527.5

p.P105R

c.314C>G

4 papers

NM_000527.5

p.P105L

c.314C>T

117 papers

NM_000527.5

p.P105Splc

c.313+1G>A

7 papers

NM_000527.5

p.P105Splc

c.313+1G>T

1 paper

NM_000527.5

p.P105A

c.313C>G

11 papers

NM_000527.5

p.P105S

c.313C>T

26 papers

NM_000527.5

p.P105Splc

c.313+2T>C

6 papers

NM_000527.5

p.P105Splc

c.313+2T>G

4 papers

NM_000527.5

p.P105Splc

c.313+3A>C

1 paper

NM_000527.5

p.P105Splc

c.313+3A>T

4 papers

NM_000527.5

p.C104W

c.312T>G

3 papers

NM_000527.5

p.P105insFs

c.313_314insC