Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.D23delFs

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
Selected Variant
2 papers
NM_000266.4
p.D23delFs
c.69delG
Surrounding Variants
2 papers
NM_000266.4
p.S24C
c.70A>T
3 papers
NM_000266.4
p.D23E
c.69C>G
1 paper
NM_000266.4
p.D23E
c.69C>A
1 paper
NM_000266.4
p.D23N
c.67G>A
1 paper
NM_000266.4
p.T26T
c.78G>A
1 paper
NM_000266.4
p.G20R
c.58G>C
3 papers
NM_000266.4
p.G20R
c.58G>A
7 papers
NM_000266.4
p.I18K
c.53T>A
1 paper
NM_000266.4
p.S29fs
c.85_86fs
1 paper
NM_000266.4
p.F30fs
c.88_89fs
2 papers
NM_000266.4
p.V17insFs
c.50dupT
1 paper
NM_000266.4
p.S14_V17delFs
c.40_49del10
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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."