Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.G67R

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
4 papers
NM_000266.4
p.G67R
c.199G>C
Surrounding Variants
4 papers
NM_000266.4
p.G67R
c.199G>A
2 papers
NM_000266.4
p.G67V
c.200G>T
4 papers
NM_000266.4
p.G67E
c.200G>A
2 papers
NM_000266.4
p.E66*
c.196G>T
4 papers
NM_000266.4
p.E66K
c.196G>A
1 paper
NM_000266.4
p.C65C
c.195C>T
4 papers
NM_000266.4
p.C65W
c.195C>G
2 papers
NM_000266.4
p.H68P
c.203A>C
4 papers
NM_000266.4
p.C65Y
c.194G>A
1 paper
NM_000266.4
p.H68H
c.204C>T
1 paper
NM_000266.4
p.H68Q
c.204C>G
1 paper
NM_000266.4
p.C69G
c.205T>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."