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

16 papers

NM_000527.5

p.S226F

c.677C>T

Surrounding Variants

2 papers

NM_000527.5

p.S226C

c.677C>G

15 papers

NM_000527.5

p.S226P

c.676T>C

1 paper

NM_000527.5

p.D227_C231delFs

c.680_692del13

4 papers

NM_000527.5

p.D227del1

c.679_680delGAC

1 paper

NM_000527.5

p.S226insFs

c.676_677ins5

1 paper

NM_000527.5

p.K225N

c.675A>T

1 paper

NM_000527.5

p.K225_S226Fs

c.675_676delinsGFs

1 paper

NM_000527.5

p.D227N

c.679G>A

1 paper

NM_000527.5

p.D227H

c.679G>C

4 papers

NM_000527.5

p.D227fs

c.679_680fs

1 paper

NM_000527.5

p.D227delFs

c.680delA

19 papers

NM_000527.5

p.D227delFs

c.680_681delAC