Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.A63A

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
1 paper
NM_000266.4
p.A63A
c.189C>A
Surrounding Variants
5 papers
NM_000266.4
p.A63V
c.188C>T
8 papers
NM_000266.4
p.A63D
c.188C>A
1 paper
NM_000266.4
p.R64R
c.190A>C
3 papers
NM_000266.4
p.A63S
c.187G>T
1 paper
NM_000266.4
p.L62L
c.186G>T
4 papers
NM_000266.4
p.L62P
c.185T>C
2 papers
NM_000266.4
p.C65S
c.193T>A
4 papers
NM_000266.4
p.C65Y
c.194G>A
1 paper
NM_000266.4
p.L62L
c.184C>T
1 paper
NM_000266.4
p.C65C
c.195C>T
4 papers
NM_000266.4
p.C65W
c.195C>G
1 paper
NM_000266.4
p.L61L
c.183C>G
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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."