Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.C128*

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
3 papers
NM_000266.4
p.C128*
c.384C>A
Surrounding Variants
1 paper
NM_000266.4
p.C128C
c.384C>T
1 paper
NM_000266.4
p.C128W
c.384C>G
3 papers
NM_000266.4
p.E129*
c.385G>T
2 papers
NM_000266.4
p.C128F
c.383G>T
1 paper
NM_000266.4
p.E129Q
c.385G>C
1 paper
NM_000266.4
p.E129K
c.385G>A
1 paper
NM_000266.4
p.C128Y
c.383G>A
3 papers
NM_000266.4
p.C128R
c.382T>C
1 paper
NM_000266.4
p.E129A
c.386A>C
1 paper
NM_000266.4
p.E129E
c.387G>A
1 paper
NM_000266.4
p.E130*
c.388G>T
7 papers
NM_000266.4
p.C126*
c.378T>A
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