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.T538A

c.1612A>G

Surrounding Variants

3 papers

NM_000527.5

p.T538S

c.1612A>T

2 papers

NM_000527.5

p.T538S

c.1613C>G

1 paper

NM_000527.5

p.T538I

c.1613C>T

1 paper

NM_000527.5

p.G537insFs

c.1610_1611insAT

1 paper

NM_000527.5

p.A540del1

c.1618_1619delGCC

2 papers

NM_000527.5

p.G537R

c.1609G>A

2 papers

NM_000527.5

p.G537R

c.1609G>C

1 paper

NM_000527.5

p.G537fs

c.1609_1610fs

5 papers

NM_000527.5

p.G537*

c.1609G>T

3 papers

NM_000527.5

p.W536*

c.1608G>A

26 papers

NM_000527.5

p.P539P

c.1617C>T

1 paper

NM_000527.5

p.A540delFs

c.1618delG