Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.R90C

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
5 papers
NM_000266.4
p.R90C
c.268C>T
Surrounding Variants
1 paper
NM_000266.4
p.R90fs
c.268_269fs
4 papers
NM_000266.4
p.R90P
c.269G>C
3 papers
NM_000266.4
p.R90H
c.269G>A
5 papers
NM_000266.4
p.R90delFs
c.268delG
4 papers
NM_000266.4
p.F89L
c.267C>G
4 papers
NM_000266.4
p.F89L
c.267C>A
4 papers
NM_000266.4
p.F89L
c.265T>C
3 papers
NM_000266.4
p.S92P
c.274T>C
1 paper
NM_000266.4
p.S92T
c.274T>A
4 papers
NM_000266.4
p.C93R
c.277T>C
1 paper
NM_000266.4
p.Q87*
c.259C>T
1 paper
NM_000266.4
p.Q87fs
c.259_260fs
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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."