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

2 papers

NM_000527.5

p.S65_V66insFs

c.195_196insAT

Surrounding Variants

1 paper

NM_000527.5

p.S65insFs

c.194_195insAT

7 papers

NM_000527.5

p.S65insFs

c.195dupT

1 paper

NM_000527.5

p.S65C

c.194C>G

2 papers

NM_000527.5

p.S65F

c.194C>T

4 papers

NM_000527.5

p.V66delFs

c.196_197delGT

1 paper

NM_000527.5

p.S65T

c.193T>A

5 papers

NM_000527.5

p.S65fs

c.193_194fs

2 papers

NM_000527.5

p.L64_T67Fs

c.192_201delinsGGACTTCAFs

1 paper

NM_000527.5

p.S65_C68Fs

c.193_202delinsGGACTTCAFs

1 paper

NM_000527.5

p.L64L

c.192G>A

1 paper

NM_000527.5

p.V66I

c.196G>A

2 papers

NM_000527.5

p.V66L

c.196G>C