Varaico: Literature-Extracted Genetic Variants

LRP6

489 papers

RefSeq Summary

This gene encodes a member of the low density lipoprotein (LDL) receptor gene family. LDL receptors are transmembrane cell surface proteins involved in receptor-mediated endocytosis of lipoprotein and...

Pfam Domains

Ldl_recept_baa 107–147UCSCLow-density lipoprotein receptor repeat class B

Ldl_recept_baa 150–191UCSCLow-density lipoprotein receptor repeat class B

Ldl_recept_baa 194–234UCSCLow-density lipoprotein receptor repeat class B

FXa_inhibitionaa 286–323UCSCCoagulation Factor Xa inhibitory site

Ldl_recept_baa 372–412UCSCLow-density lipoprotein receptor repeat class B

Ldl_recept_baa 415–455UCSCLow-density lipoprotein receptor repeat class B

Gene Aliases

HGNC Name

LDL receptor related protein 6

HGNC Alias Symbol

ADCAD2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002336.3

p.G588G

c.1764T>A

Surrounding Variants

1 paper

NM_002336.3

p.N590K

c.1770C>G

1 paper

NM_002336.3

p.N590K

c.1770C>A

1 paper

NM_002336.3

p.P591L

c.1772C>T

1 paper

NM_002336.3

p.P591R

c.1772C>G

10 papers

NM_002336.3

p.E594*

c.1780G>T

10 papers

NM_002336.3

p.A593insFs

c.1779dupT

1 paper

NM_002336.3

p.G598E

c.1793G>A

1 paper

NM_002336.3

p.P607T

c.1819C>A

1 paper

NM_002336.3

p.G609fs

c.1825_1826fs

1 paper

NM_002336.3

p.G609delFs

c.1826delC

40 papers

NM_002336.3

p.R611C

c.1831C>T

1 paper

NM_002336.3

p.R611L

c.1832G>T