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.S92A

c.274T>G

Surrounding Variants

1 paper

NM_002336.3

p.V86_V90del5

c.256_269del15

1 paper

NM_002336.3

p.V91insFs

c.272_273insA

2 papers

NM_002336.3

p.V90I

c.268G>A

1 paper

NM_002336.3

p.D98E

c.294T>G

1 paper

NM_002336.3

p.D98D

c.294T>C

1 paper

NM_002336.3

p.G99insFs

c.296_297insC

1 paper

NM_002336.3

p.T83I

c.248C>T

1 paper

NM_002336.3

p.A101T

c.301G>A

13 papers

NM_002336.3

p.K82N

c.246A>T

13 papers

NM_002336.3

p.K82N

c.246A>C

1 paper

NM_002336.3

p.S96_A101del0

c.287_301del15

6 papers

NM_002336.3

p.N81I

c.242A>T