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.L64V

c.190T>G

Surrounding Variants

1 paper

NM_002336.3

p.L64L

c.192G>A

7 papers

NM_002336.3

p.I65insFs

c.195dupA

7 papers

NM_002336.3

p.Y66fs

c.196_197fs

1 paper

NM_002336.3

p.F58L

c.174T>A

1 paper

NM_002336.3

p.D69D

c.207T>C

1 paper

NM_002336.3

p.D57N

c.169G>A

1 paper

NM_002336.3

p.D69_V70del0

c.205_210del6

2 papers

NM_002336.3

p.E72K

c.214G>A

2 papers

NM_002336.3

p.E73K

c.217G>A

1 paper

NM_002336.3

p.A54T

c.160G>A

1 paper

NM_002336.3

p.D52N

c.154G>A

1 paper

NM_002336.3

p.K76E

c.226A>G