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.A19Splc

c.56-36C>T

Surrounding Variants

13 papers

NM_002336.3

p.A19V

c.56C>T

1 paper

NM_002336.3

p.R28I

c.83G>T

1 paper

NM_002336.3

p.R29Q

c.86G>A

1 paper

NM_002336.3

p.R29_D30delFs

c.86_90del5

5 papers

NM_002336.3

p.R32*

c.94C>T

1 paper

NM_002336.3

p.R32R

c.94C>A

1 paper

NM_002336.3

p.L33L

c.97T>C

1 paper

NM_002336.3

p.L33W

c.98T>G

1 paper

NM_002336.3

p.A36P

c.106G>C

2 papers

NM_002336.3

p.T37A

c.109A>G

1 paper

NM_002336.3

p.T37R

c.110C>G

2 papers

NM_002336.3

p.N38I

c.113A>T