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.A391V

c.1172C>T

Surrounding Variants

1 paper

NM_000527.5

p.C392insFs

c.1174_1175insT

2 papers

NM_000527.5

p.A391A

c.1173C>T

54 papers

NM_000527.5

p.A391T

c.1171G>A

NM_001195800.2

p.A223T

c.667G>A

1 paper

NM_000527.5

p.A391fs

c.1171_1172fs

5 papers

NM_000527.5

p.C392R

c.1174T>C

3 papers

NM_000527.5

p.C392fs

c.1174_1175fs

1 paper

NM_000527.5

p.C392_G396del0

c.1175_1186del12

1 paper

NM_000527.5

p.K390R

c.1169A>G

1 paper

NM_000527.5

p.A391delFs

c.1171delG

3 papers

NM_000527.5

p.C392Y

c.1175G>A

1 paper

NM_000527.5

p.K390insFs

c.1168_1169insC

3 papers

NM_000527.5

p.K390E

c.1168A>G