Varaico: Literature-Extracted Genetic Variants

Gene:NDP

NDP

247 papers

RefSeq Summary

This gene encodes a secreted protein with a cystein-knot motif that activates the Wnt/beta-catenin pathway. The protein forms disulfide-linked oligomers in the extracellular matrix. Mutations in this ...

Pfam Domains

Cys_knotaa 37–133UCSCCystine-knot domain

Gene Aliases

HGNC Name

norrin cystine knot growth factor NDP

HGNC Previous Symbol

EVR2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 298 variants
31 papers
NM_000266.4
p.R121W
c.361C>T
27 papers
NM_000266.4
p.R121Q
c.362G>A
24 papers
NM_000266.4
p.K58N
c.174G>C
23 papers
NM_000266.4
p.K58N
c.174G>T
13 papers
NM_000266.4
p.R115L
c.344G>T
12 papers
NM_000266.4
p.A105T
c.313G>A
12 papers
NM_000266.4
p.L108P
c.323T>C
11 papers
NM_000266.4
p.G112E
c.335G>A
11 papers
NM_000266.4
p.L124F
c.370C>T
10 papers
NM_000266.4
p.K54N
c.162G>T
10 papers
NM_000266.4
p.K54N
c.162G>C
10 papers
NM_000266.4
p.V60E
c.179T>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."