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

2 papers

NM_002334.4

p.P1021delFs

c.3062delG

Surrounding Variants

1 paper

NM_002334.4

p.N1022D

c.3064A>G

4 papers

NM_002334.4

p.S1020fs

c.3058_3059fs

11 papers

NM_002334.4

p.C1017R

c.3049T>C

1 paper

NM_002334.4

p.T1029P

c.3085A>C

1 paper

NM_002334.4

p.G1011G

c.3033C>T

1 paper

NM_002334.4

p.G1033V

c.3098G>T

1 paper

NM_002334.4

p.G1033G

c.3099C>T

1 paper

NM_002334.4

p.R997H

c.2990G>A

1 paper

NM_002334.4

p.R997C

c.2989C>T

1 paper

NM_002334.4

p.E980K

c.2938G>A

1 paper

NM_002334.4

p.I968_S970del0

c.2902_2910del9

10 papers

NM_002334.4

p.L953P

c.2858T>C