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.D799V

c.2396A>T

Surrounding Variants

1 paper

NM_002336.3

p.I798S

c.2393T>G

1 paper

NM_002336.3

p.I798V

c.2392A>G

1 paper

NM_002336.3

p.A801T

c.2401G>A

1 paper

NM_002336.3

p.R803M

c.2408G>T

1 paper

NM_002336.3

p.N794S

c.2381A>G

1 paper

NM_002336.3

p.L805F

c.2413C>T

1 paper

NM_002336.3

p.A793T

c.2377G>A

1 paper

NM_002336.3

p.R792_A793insC

c.2374_2378ins3

2 papers

NM_002336.3

p.N789S

c.2366A>G

1 paper

NM_002336.3

p.R803_T812del10

c.2407_2435del30

1 paper

NM_002336.3

p.E816G

c.2447A>G

10 papers

NM_002336.3

p.S817C

c.2450C>G