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

3 papers

NM_002336.3

p.R386C

c.1156C>T

Surrounding Variants

1 paper

NM_002336.3

p.R386P

c.1157G>C

1 paper

NM_002336.3

p.R386H

c.1157G>A

1 paper

NM_002336.3

p.R386R

c.1158T>C

5 papers

NM_002336.3

p.R385P

c.1154G>C

9 papers

NM_002336.3

p.A383fs

c.1147_1148fs

1 paper

NM_002336.3

p.I389V

c.1165A>G

8 papers

NM_002336.3

p.R382insFs

c.1144_1145dupAG

2 papers

NM_002336.3

p.E380Q

c.1138G>C

1 paper

NM_002336.3

p.E380K

c.1138G>A

2 papers

NM_002336.3

p.G393D

c.1178G>A

6 papers

NM_002336.3

p.Y373C

c.1118A>G

1 paper

NM_002336.3

p.A400V

c.1199C>T