Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.C95R

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
8 papers
NM_000266.4
p.C95R
c.283T>C
Surrounding Variants
4 papers
NM_000266.4
p.C95F
c.284G>T
2 papers
NM_000266.4
p.C95Y
c.284G>A
2 papers
NM_000266.4
p.C95W
c.285C>G
1 paper
NM_000266.4
p.C95*
c.285C>A
3 papers
NM_000266.4
p.H94L
c.281A>T
1 paper
NM_000266.4
p.C93delFs
c.279delA
1 paper
NM_000266.4
p.C93fs
c.277_278fs
2 papers
NM_000266.4
p.C96F
c.287G>T
7 papers
NM_000266.4
p.C96Y
c.287G>A
6 papers
NM_000266.4
p.C96W
c.288C>G
4 papers
NM_000266.4
p.C93R
c.277T>C
6 papers
NM_000266.4
p.R97P
c.290G>C
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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."