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.I656V

c.1966A>G

Surrounding Variants

1 paper

NM_002336.3

p.G660S

c.1978G>A

2 papers

NM_002336.3

p.N651S

c.1952A>G

1 paper

NM_002336.3

p.N650K

c.1950C>G

1 paper

NM_002336.3

p.N650I

c.1949A>T

1 paper

NM_002336.3

p.N650H

c.1948A>C

1 paper

NM_002336.3

p.T649K

c.1946C>A

1 paper

NM_002336.3

p.E663A

c.1988A>C

1 paper

NM_002336.3

p.E663fs

c.1987_1988fs

1 paper

NM_002336.3

p.R644*

c.1930C>T

1 paper

NM_002336.3

p.R644G

c.1930C>G

5 papers

NM_002336.3

p.I642insFs

c.1924dupA

5 papers

NM_002336.3

p.I642fs

c.1924_1925fs