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.D362fs

c.1084_1085fs

Surrounding Variants

4 papers

NM_000527.5

p.D362delFs

c.1085delA

1 paper

NM_000527.5

p.D362insFs

c.1086dupC

10 papers

NM_000527.5

p.D362A

c.1085A>C

1 paper

NM_000527.5

p.D362G

c.1085A>G

1 paper

NM_000527.5

p.D362_K376del15

c.1084_1127del45

1 paper

NM_000527.5

p.P361R

c.1082C>G

1 paper

NM_000527.5

p.D362D

c.1086C>T

2 papers

NM_000527.5

p.T363A

c.1087A>G

1 paper

NM_001195803.2

p.T236delFs

c.708delC

4 papers

NM_000527.5

p.P361S

c.1081C>T

3 papers

NM_000527.5

p.T363N

c.1088C>A

2 papers

NM_000527.5

p.D360E

c.1080T>A