Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.P98fs

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.P98fs
c.292_293fs
Surrounding Variants
9 papers
NM_000266.4
p.P98L
c.293C>T
1 paper
NM_000266.4
p.Q99*
c.295C>T
2 papers
NM_000266.4
p.P98R
c.293C>G
1 paper
NM_000266.4
p.R97insFs
c.291dupG
1 paper
NM_000266.4
p.P98T
c.292C>A
1 paper
NM_000266.4
p.R97R
c.291G>A
6 papers
NM_000266.4
p.R97P
c.290G>C
6 papers
NM_000266.4
p.C96W
c.288C>G
1 paper
NM_000266.4
p.Q99_T100del0
c.295_300del6
2 papers
NM_000266.4
p.C96F
c.287G>T
7 papers
NM_000266.4
p.C96Y
c.287G>A
6 papers
NM_000266.4
p.S101F
c.302C>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."