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.R751W

c.2251C>T

Surrounding Variants

7 papers

NM_000527.5

p.R751Q

c.2252G>A

1 paper

NM_000527.5

p.S750P

c.2248T>C

1 paper

NM_000527.5

p.S750fs

c.2248_2249fs

2 papers

NM_000527.5

p.S750delFs

c.2249delC

1 paper

NM_000527.5

p.L752P

c.2255T>C

1 paper

NM_000527.5

p.L752L

c.2256G>T

1 paper

NM_000527.5

p.T749insFs

c.2245_2246insG

1 paper

NM_000527.5

p.T749A

c.2245A>G

3 papers

NM_000527.5

p.P753A

c.2257C>G

2 papers

NM_000527.5

p.P753S

c.2257C>T

1 paper

NM_000527.5

p.P753fs

c.2257_2258fs

2 papers

NM_000527.5

p.D748_T749insFs

c.2244_2245insA