Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.S111delFs

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.S111delFs
c.333delT
Surrounding Variants
1 paper
NM_000266.4
p.G112fs
c.334_335fs
11 papers
NM_000266.4
p.G112E
c.335G>A
5 papers
NM_000266.4
p.S111*
c.332C>G
5 papers
NM_000266.4
p.S111*
c.332C>A
1 paper
NM_000266.4
p.S111P
c.331T>C
1 paper
NM_000266.4
p.G113C
c.337G>T
1 paper
NM_000266.4
p.G113fs
c.337_338fs
1 paper
NM_000266.4
p.G113insFs
c.338_339insC
1 paper
NM_000266.4
p.G113A
c.338G>C
5 papers
NM_000266.4
p.G113D
c.338G>A
1 paper
NM_000266.4
p.C110*
c.330C>A
1 paper
NM_000266.4
p.C110F
c.329G>T
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