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

1 paper

NM_002334.4

p.W1270C

c.3810G>C

Surrounding Variants

1 paper

NM_002334.4

p.W1270C

c.3810G>T

1 paper

NM_002334.4

p.R1273W

c.3817C>T

17 papers

NM_002334.4

p.R1277H

c.3830G>A

1 paper

NM_002334.4

p.D1279H

c.3835G>C

1 paper

NM_002334.4

p.V1252A

c.3755T>C

1 paper

NM_002334.4

p.P1294S

c.3880C>T

1 paper

NM_002334.4

p.A1238T

c.3712G>A

8 papers

NM_002334.4

p.E1233A

c.3698A>C

17 papers

NM_002334.4

p.E1233K

c.3697G>A

1 paper

NM_002334.4

p.A1221_L1226delFs

c.3663_3676del14

1 paper

NM_002334.4

p.S1222fs

c.3664_3665fs

1 paper

NM_002334.4

p.D1219G

c.3656A>G