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

4 papers

NM_002336.3

p.V483I

c.1447G>A

Surrounding Variants

1 paper

NM_002336.3

p.V485F

c.1453G>T

1 paper

NM_002336.3

p.R481C

c.1441C>T

1 paper

NM_002336.3

p.S479F

c.1436C>T

1 paper

NM_002336.3

p.S488A

c.1462T>G

3 papers

NM_002336.3

p.S488Y

c.1463C>A

2 papers

NM_002336.3

p.R473P

c.1418G>C

10 papers

NM_002336.3

p.R473Q

c.1418G>A

1 paper

NM_002336.3

p.N493K

c.1479T>A

5 papers

NM_002336.3

p.G494D

c.1481G>A

9 papers

NM_002336.3

p.P469L

c.1406C>T

1 paper

NM_002336.3

p.L497F

c.1491G>T

1 paper

NM_002336.3

p.L497F

c.1491G>C