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

1–12 of 708 variants

40 papers

NM_002336.3

p.R611C

c.1831C>T

27 papers

NM_002336.3

p.V1062I

c.3184G>A

13 papers

NM_002336.3

p.A19V

c.56C>T

13 papers

NM_002336.3

p.K82N

c.246A>T

13 papers

NM_002336.3

p.K82N

c.246A>C

11 papers

NM_002336.3

p.W764*

c.2291G>A

11 papers

NM_002336.3

p.W764*

c.2292G>A

10 papers

NM_002336.3

p.R360H

c.1079G>A

10 papers

NM_002336.3

p.R473Q

c.1418G>A

10 papers

NM_002336.3

p.E594*

c.1780G>T

10 papers

NM_002336.3

p.A593insFs

c.1779dupT

10 papers

NM_002336.3

p.S817C

c.2450C>G