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.D103A

c.308A>C

Surrounding Variants

1 paper

NM_002336.3

p.D103fs

c.307_308fs

1 paper

NM_002336.3

p.W104*

c.312G>A

1 paper

NM_002336.3

p.S96_A101del0

c.287_301del15

1 paper

NM_002336.3

p.A101T

c.301G>A

1 paper

NM_002336.3

p.E107Q

c.319G>C

1 paper

NM_002336.3

p.G99insFs

c.296_297insC

1 paper

NM_002336.3

p.D98_G106del9

c.292_317del27

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.K108fs

c.322_323fs

1 paper

NM_002336.3

p.W111*

c.332G>A

1 paper

NM_002336.3

p.W111*

c.333G>A