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.D411Y

c.1231G>T

Surrounding Variants

2 papers

NM_002336.3

p.V413I

c.1237G>A

1 paper

NM_002336.3

p.I408N

c.1223T>A

1 paper

NM_002336.3

p.R415Q

c.1244G>A

9 papers

NM_002336.3

p.Y418H

c.1252T>C

1 paper

NM_002336.3

p.A400V

c.1199C>T

1 paper

NM_002336.3

p.T422A

c.1264A>G

1 paper

NM_002336.3

p.T422I

c.1265C>T

1 paper

NM_002336.3

p.R426*

c.1276C>T

1 paper

NM_002336.3

p.E428V

c.1283A>T

2 papers

NM_002336.3

p.G393D

c.1178G>A

1 paper

NM_002336.3

p.T430A

c.1288A>G

1 paper

NM_002336.3

p.R431M

c.1292G>T