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.D1436G

c.4307A>G

Surrounding Variants

1 paper

NM_002334.4

p.Y1443H

c.4327T>C

1 paper

NM_002334.4

p.I1423I

c.4269C>T

1 paper

NM_002334.4

p.M1419V

c.4255A>G

1 paper

NM_002334.4

p.R1462H

c.4385G>A

1 paper

NM_002334.4

p.A1475T

c.4423G>A

1 paper

NM_002334.4

p.F1479_P1480delins

c.4437_4438delinsTT

1 paper

NM_002334.4

p.K1495E

c.4483A>G

1 paper

NM_002334.4

p.D1502G

c.4505A>G

1 paper

NM_002334.4

p.D1502A

c.4505A>C

1 paper

NM_002334.4

p.T1512T

c.4536A>T

1 paper

NM_002334.4

p.W1516S

c.4547G>C

4 papers

NM_002334.4

p.D1403H

c.4207G>C