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

1–12 of 314 variants

23 papers

NM_002334.4

p.W1186S

c.3557G>C

22 papers

NM_002334.4

p.R1170W

c.3508C>T

17 papers

NM_002334.4

p.E1233K

c.3697G>A

17 papers

NM_002334.4

p.R1277H

c.3830G>A

16 papers

NM_002334.4

p.D529N

c.1585G>A

12 papers

NM_002334.4

p.D449N

c.1345G>A

11 papers

NM_002334.4

p.C1017R

c.3049T>C

11 papers

NM_002334.4

p.I1086V

c.3256A>G

11 papers

NM_002334.4

p.S1554G

c.4660A>G

10 papers

NM_002334.4

p.C160Y

c.479G>A

10 papers

NM_002334.4

p.T461P

c.1381A>C

10 papers

NM_002334.4

p.L473F

c.1417C>T