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

2 papers

NM_002336.3

p.Y505C

c.1514A>G

Surrounding Variants

2 papers

NM_002336.3

p.W506*

c.1517G>A

2 papers

NM_002336.3

p.W506*

c.1518G>A

1 paper

NM_002336.3

p.K503R

c.1508A>G

1 paper

NM_002336.3

p.K503E

c.1507A>G

1 paper

NM_002336.3

p.E501A

c.1502A>C

1 paper

NM_002336.3

p.D500H

c.1498G>C

1 paper

NM_002336.3

p.T511R

c.1532C>G

1 paper

NM_002336.3

p.Y499S

c.1496A>C

1 paper

NM_002336.3

p.L497F

c.1491G>T

1 paper

NM_002336.3

p.L497F

c.1491G>C

1 paper

NM_002336.3

p.K513*

c.1537A>T

5 papers

NM_002336.3

p.G494D

c.1481G>A