Varaico: Literature-Extracted Genetic Variants

LRP4

333 papers

RefSeq Summary

This gene encodes a member of the low-density lipoprotein receptor-related protein family. The encoded protein may be a regulator of Wnt signaling. Mutations in this gene are associated with Cenani-Le...

Pfam Domains

Ldl_recept_aaa 25–66UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 69–105UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 108–143UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 146–182UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 189–225UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 229–265UCSCLow-density lipoprotein receptor domain class A

Gene Aliases

HGNC Name

LDL receptor related protein 4

HGNC Alias Symbols

MEGF7; CLSS; LRP-4; SOST2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002334.4

p.D168N

c.502G>A

Surrounding Variants

1 paper

NM_002334.4

p.C167R

c.499T>C

1 paper

NM_002334.4

p.G169C

c.505G>T

1 paper

NM_002334.4

p.K174N

c.522A>T

10 papers

NM_002334.4

p.C160Y

c.479G>A

1 paper

NM_002334.4

p.S177Y

c.530C>A

1 paper

NM_002334.4

p.G158G

c.474A>G

1 paper

NM_002334.4

p.D178N

c.532G>A

1 paper

NM_002334.4

p.E180Q

c.538G>C

1 paper

NM_002334.4

p.C155F

c.464G>T

5 papers

NM_002334.4

p.P183Splc

c.547+1G>A

1 paper

NM_002334.4

p.D150N

c.448G>A

1 paper

NM_002334.4

p.C148*

c.444C>A