Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.M1I

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.M1I
c.3G>T
Surrounding Variants
1 paper
NM_000266.4
p.M1I
c.3G>C
1 paper
NM_000266.4
p.M1I
c.3G>A
5 papers
NM_000266.4
p.M1R
c.2T>G
3 papers
NM_000266.4
p.M1T
c.2T>C
3 papers
NM_000266.4
p.M1K
c.2T>A
1 paper
NM_000266.4
p.M1delFs
c.2_3delCA
1 paper
NM_000266.4
p.R2K
c.5G>A
8 papers
NM_000266.4
p.M1V
c.1A>G
1 paper
NM_000266.4
p.K3insFs
c.7_8ins7
1 paper
NM_000266.4
p.K3_H4ins12
c.7_11ins36
1 paper
NM_000266.4
p.H4fs
c.10_11fs
1 paper
NM_000266.4
p.V5I
c.13G>A
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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."