Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.C126R

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.C126R
c.376T>C
Surrounding Variants
3 papers
NM_000266.4
p.C126S
c.376T>A
3 papers
NM_000266.4
p.C126F
c.377G>T
3 papers
NM_000266.4
p.C126S
c.377G>C
7 papers
NM_000266.4
p.C126*
c.378T>A
1 paper
NM_000266.4
p.L124L
c.372C>T
1 paper
NM_000266.4
p.L124P
c.371T>C
3 papers
NM_000266.4
p.C128R
c.382T>C
11 papers
NM_000266.4
p.L124F
c.370C>T
2 papers
NM_000266.4
p.C128F
c.383G>T
1 paper
NM_000266.4
p.C128Y
c.383G>A
7 papers
NM_000266.4
p.I123N
c.368T>A
1 paper
NM_000266.4
p.C128C
c.384C>T
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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."