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.K438M

c.1313A>T

Surrounding Variants

1 paper

NM_002336.3

p.K438R

c.1313A>G

1 paper

NM_002336.3

p.I439M

c.1317C>G

2 papers

NM_002336.3

p.M436V

c.1306A>G

1 paper

NM_002336.3

p.I441_S442ins5

c.1321_1325ins15

1 paper

NM_002336.3

p.G434R

c.1300G>A

9 papers

NM_002336.3

p.N433S

c.1298A>G

1 paper

NM_002336.3

p.L432H

c.1295T>A

1 paper

NM_002336.3

p.R431M

c.1292G>T

1 paper

NM_002336.3

p.T430A

c.1288A>G

1 paper

NM_002336.3

p.E428V

c.1283A>T

1 paper

NM_002336.3

p.P448P

c.1344C>G

1 paper

NM_002336.3

p.R426*

c.1276C>T