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

4 papers

NM_002334.4

p.D541D

c.1623T>C

Surrounding Variants

2 papers

NM_002334.4

p.R545W

c.1633C>T

3 papers

NM_002334.4

p.K546K

c.1638A>G

1 paper

NM_002334.4

p.N552Y

c.1654A>T

16 papers

NM_002334.4

p.D529N

c.1585G>A

1 paper

NM_002334.4

p.V521L

c.1561G>C

1 paper

NM_002334.4

p.G566S

c.1696G>A

1 paper

NM_002334.4

p.G515S

c.1543G>A

2 papers

NM_002334.4

p.P513R

c.1538C>G

2 papers

NM_002334.4

p.N501H

c.1501A>C

1 paper

NM_002334.4

p.N498I

c.1493A>T

1 paper

NM_002334.4

p.R494C

c.1480C>T

1 paper

NM_002334.4

p.L481I

c.1441C>A