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

6 papers

NM_000527.5

p.S849_R850Splc

c.2547+1G>A

Surrounding Variants

2 papers

NM_000527.5

p.S849S

c.2547G>A

1 paper

NM_000527.5

p.S849_R850Splc

c.2547+2T>G

5 papers

NM_000527.5

p.S849*

c.2546C>A

4 papers

NM_000527.5

p.S849L

c.2546C>T

2 papers

NM_000527.5

p.S849_R850Splc

c.2547+3G>C

1 paper

NM_000527.5

p.S849fs

c.2545_2546fs

2 papers

NM_000527.5

p.S849delFs

c.2546delC

3 papers

NM_000527.5

p.S849_R850Splc

c.2547+5G>A

2 papers

NM_000527.5

p.S849_R850Splc

c.2547+5G>C

1 paper

NM_000527.5

p.P848L

c.2543C>T

1 paper

NM_001195800.2

p.P680S

c.2038C>T

2 papers

NM_000527.5

p.Y847*

c.2541C>A