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.N1385S

c.4154A>G

Surrounding Variants

1 paper

NM_002334.4

p.V1395L

c.4183G>T

1 paper

NM_002334.4

p.V1395L

c.4183G>C

1 paper

NM_002334.4

p.D1396E

c.4188T>G

4 papers

NM_002334.4

p.D1403H

c.4207G>C

1 paper

NM_002334.4

p.R1365Q

c.4094G>A

2 papers

NM_002334.4

p.R1361C

c.4081C>T

1 paper

NM_002334.4

p.L1356R

c.4067T>G

1 paper

NM_002334.4

p.P1352P

c.4056T>G

1 paper

NM_002334.4

p.P1350H

c.4049C>A

1 paper

NM_002334.4

p.G1338D

c.4013G>A

1 paper

NM_002334.4

p.H1322L

c.3965A>T

1 paper

NM_002334.4

p.S1321fs

c.3961_3962fs