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.N1048N

c.3144C>T

Surrounding Variants

1 paper

NM_002334.4

p.S1049C

c.3145A>T

1 paper

NM_002334.4

p.R1056T

c.3167G>C

1 paper

NM_002334.4

p.R1060H

c.3179G>A

11 papers

NM_002334.4

p.I1086V

c.3256A>G

1 paper

NM_002334.4

p.G1087A

c.3260G>C

1 paper

NM_002334.4

p.Q1114*

c.3340C>T

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.G1135A

c.3404G>C

1 paper

NM_002334.4

p.N1152I

c.3455A>T

22 papers

NM_002334.4

p.R1170W

c.3508C>T

9 papers

NM_002334.4

p.R1170Q

c.3509G>A