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.L331M

c.991T>A

Surrounding Variants

1 paper

NM_002336.3

p.L332R

c.995T>G

5 papers

NM_002336.3

p.R335*

c.1003C>T

1 paper

NM_002336.3

p.R335L

c.1004G>T

1 paper

NM_002336.3

p.R336M

c.1007G>T

1 paper

NM_002336.3

p.T337A

c.1009A>G

3 papers

NM_002336.3

p.R341H

c.1022G>A

1 paper

NM_002336.3

p.I342V

c.1024A>G

2 papers

NM_002336.3

p.L344S

c.1031T>C

2 papers

NM_002336.3

p.I342_S343delFs

c.1025_1028del4

1 paper

NM_002336.3

p.D348N

c.1042G>A

1 paper

NM_002336.3

p.V353G

c.1058T>G

1 paper

NM_002336.3

p.L356L

c.1066T>C