Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.S57*

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.S57*
c.170C>G
Surrounding Variants
5 papers
NM_000266.4
p.S57*
c.170C>A
1 paper
NM_000266.4
p.S57S
c.171A>T
1 paper
NM_000266.4
p.S56delins
c.166delinsAAGG
2 papers
NM_000266.4
p.K58R
c.173A>G
1 paper
NM_000266.4
p.S56_K58Fs
c.167_174delinsAAGGFs
23 papers
NM_000266.4
p.K58N
c.174G>T
24 papers
NM_000266.4
p.K58N
c.174G>C
1 paper
NM_000266.4
p.S56G
c.166A>G
1 paper
NM_000266.4
p.C55C
c.165T>C
1 paper
NM_000266.4
p.K58_M59Splc
c.174+1G>T
1 paper
NM_000266.4
p.K58_M59Splc
c.174+1G>C
2 papers
NM_000266.4
p.K58_M59Splc
c.174+1G>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."