Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.D46delFs

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.D46delFs
c.136delC
Surrounding Variants
2 papers
NM_000266.4
p.D46G
c.137A>G
4 papers
NM_000266.4
p.V45G
c.134T>G
1 paper
NM_000266.4
p.V45A
c.134T>C
6 papers
NM_000266.4
p.V45E
c.134T>A
1 paper
NM_000266.4
p.Y44insFs
c.131_132dupAT
4 papers
NM_000266.4
p.V45M
c.133G>A
1 paper
NM_000266.4
p.Y44insFs
c.131dupA
3 papers
NM_000266.4
p.Y44*
c.132T>G
3 papers
NM_000266.4
p.Y44*
c.132T>A
1 paper
NM_000266.4
p.H43_Y44del1
c.129_131delTAG
1 paper
NM_000266.4
p.I48S
c.143T>G
1 paper
NM_000266.4
p.I48T
c.143T>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."