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

3 papers

NM_002334.4

p.N1207S

c.3620A>G

Surrounding Variants

7 papers

NM_002334.4

p.A1203V

c.3608C>T

1 paper

NM_002334.4

p.A1203T

c.3607G>A

1 paper

NM_002334.4

p.S1200S

c.3600A>C

8 papers

NM_002334.4

p.G1199S

c.3595G>A

1 paper

NM_002334.4

p.D1219G

c.3656A>G

1 paper

NM_002334.4

p.S1222fs

c.3664_3665fs

1 paper

NM_002334.4

p.A1221_L1226delFs

c.3663_3676del14

2 papers

NM_002334.4

p.W1186*

c.3558G>A

23 papers

NM_002334.4

p.W1186S

c.3557G>C

2 papers

NM_002334.4

p.W1186*

c.3557G>A

17 papers

NM_002334.4

p.E1233K

c.3697G>A

8 papers

NM_002334.4

p.E1233A

c.3698A>C