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.N1152I

c.3455A>T

Surrounding Variants

1 paper

NM_002334.4

p.G1135A

c.3404G>C

22 papers

NM_002334.4

p.R1170W

c.3508C>T

9 papers

NM_002334.4

p.R1170Q

c.3509G>A

1 paper

NM_002334.4

p.G1128A

c.3383G>C

1 paper

NM_002334.4

p.G1128E

c.3383G>A

1 paper

NM_002334.4

p.Q1114*

c.3340C>T

23 papers

NM_002334.4

p.W1186S

c.3557G>C

2 papers

NM_002334.4

p.W1186*

c.3557G>A

2 papers

NM_002334.4

p.W1186*

c.3558G>A

8 papers

NM_002334.4

p.G1199S

c.3595G>A

1 paper

NM_002334.4

p.S1200S

c.3600A>C

1 paper

NM_002334.4

p.A1203T

c.3607G>A