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

10 papers

NM_002334.4

p.L473F

c.1417C>T

Surrounding Variants

1 paper

NM_002334.4

p.H477Y

c.1429C>T

1 paper

NM_002334.4

p.R479R

c.1437C>T

1 paper

NM_002334.4

p.L481I

c.1441C>A

10 papers

NM_002334.4

p.T461P

c.1381A>C

1 paper

NM_002334.4

p.R457C

c.1369C>T

1 paper

NM_002334.4

p.R494C

c.1480C>T

1 paper

NM_002334.4

p.R451W

c.1351C>T

4 papers

NM_002334.4

p.I450V

c.1348A>G

12 papers

NM_002334.4

p.D449N

c.1345G>A

1 paper

NM_002334.4

p.N498I

c.1493A>T

2 papers

NM_002334.4

p.N501H

c.1501A>C

1 paper

NM_002334.4

p.F444F

c.1332C>T