Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.A118D

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.A118D
c.353C>A
Surrounding Variants
1 paper
NM_000266.4
p.A118S
c.352G>T
1 paper
NM_000266.4
p.A118A
c.354C>A
1 paper
NM_000266.4
p.R107_A118delFs
c.320_353del34
2 papers
NM_000266.4
p.T119P
c.355A>C
1 paper
NM_000266.4
p.G112_T117delFs
c.334_349del16
1 paper
NM_000266.4
p.Y120D
c.358T>G
1 paper
NM_000266.4
p.L116L
c.348C>T
5 papers
NM_000266.4
p.Y120C
c.359A>G
31 papers
NM_000266.4
p.R121W
c.361C>T
5 papers
NM_000266.4
p.R121G
c.361C>G
13 papers
NM_000266.4
p.R115L
c.344G>T
8 papers
NM_000266.4
p.R121L
c.362G>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."