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

6 papers

NM_002336.3

p.S127T

c.379T>A

Surrounding Variants

1 paper

NM_002336.3

p.G126E

c.377G>A

1 paper

NM_002336.3

p.R129Q

c.386G>A

2 papers

NM_002336.3

p.K130*

c.388A>T

1 paper

NM_002336.3

p.K130R

c.389A>G

1 paper

NM_002336.3

p.V131I

c.391G>A

1 paper

NM_002336.3

p.N123D

c.367A>G

1 paper

NM_002336.3

p.S122Y

c.365C>A

1 paper

NM_002336.3

p.F133L

c.399T>A

1 paper

NM_002336.3

p.V131_W134del4

c.391_401del12

1 paper

NM_002336.3

p.R118R

c.354G>T

1 paper

NM_002336.3

p.R118G

c.352C>G

1 paper

NM_002336.3

p.L137S

c.410T>C