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.F402S

c.1205T>C

Surrounding Variants

4 papers

NM_000527.5

p.F402delFs

c.1206delC

4 papers

NM_000527.5

p.F402L

c.1206C>A

3 papers

NM_000527.5

p.F402L

c.1206C>G

1 paper

NM_000527.5

p.F402F

c.1206C>T

2 papers

NM_000527.5

p.F403delFs

c.1207delT

4 papers

NM_000527.5

p.F402L

c.1204T>C

2 papers

NM_000527.5

p.F402fs

c.1204_1205fs

1 paper

NM_000527.5

p.F402fs

c.1204_1205fs

8 papers

NM_000527.5

p.F402_F403delFs

c.1206_1207delCT

2 papers

NM_000527.5

p.F402insFs

c.1204_1205insT

1 paper

NM_000527.5

p.F402delFs

c.1204_1205delTT

11 papers

NM_000527.5

p.F403L

c.1207T>C