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.S648fs

c.1942_1943fs

Surrounding Variants

8 papers

NM_000527.5

p.S648P

c.1942T>C

1 paper

NM_000527.5

p.S648A

c.1942T>G

4 papers

NM_000527.5

p.S648_P649insFs

c.1944_1945insC

4 papers

NM_000527.5

p.S648delFs

c.1943delC

2 papers

NM_000527.5

p.S648F

c.1943C>T

3 papers

NM_000527.5

p.S648Fs

c.1943_1944delinsGFs

1 paper

NM_000527.5

p.L647L

c.1941G>T

4 papers

NM_000527.5

p.S648_P649del2

c.1942_1946del6

1 paper

NM_000527.5

p.S648_H656del9

c.1942_1967del27

2 papers

NM_000527.5

p.L647P

c.1940T>C

2 papers

NM_000527.5

p.L647insFs

c.1939_1940insA

1 paper

NM_000527.5

p.P649_E650insT

c.1945_1949ins3