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.S1025_I1028del0

c.3074_3082del9

Surrounding Variants

2 papers

NM_002336.3

p.S1025_I1028del4

c.3073_3083del12

1 paper

NM_002336.3

p.R1026H

c.3077G>A

5 papers

NM_002336.3

p.R1026C

c.3076C>T

1 paper

NM_002336.3

p.S1025R

c.3075C>G

1 paper

NM_002336.3

p.S1025R

c.3075C>A

1 paper

NM_002336.3

p.S1025R

c.3073A>C

2 papers

NM_002336.3

p.C1032F

c.3095G>T

1 paper

NM_002336.3

p.N1036S

c.3107A>G

1 paper

NM_002336.3

p.N1039Y

c.3115A>T

1 paper

NM_002336.3

p.Y1017C

c.3050A>G

1 paper

NM_002336.3

p.P1016S

c.3046C>T

3 papers

NM_002336.3

p.D1044N

c.3130G>A