Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.S80_F81del1

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.S80_F81del1
c.239_241delACG
Surrounding Variants
1 paper
NM_000266.4
p.V79_S80delFs
c.236_240del5
2 papers
NM_000266.4
p.S80_F81insFs
c.240_241insGG
1 paper
NM_000266.4
p.F81L
c.241T>C
1 paper
NM_000266.4
p.F81L
c.243C>G
1 paper
NM_000266.4
p.F81L
c.243C>A
1 paper
NM_000266.4
p.F81fs
c.241_242fs
1 paper
NM_000266.4
p.S80S
c.240G>A
1 paper
NM_000266.4
p.S82G
c.244A>G
1 paper
NM_000266.4
p.S80_F81del2
c.238_242del6
1 paper
NM_000266.4
p.S80P
c.238T>C
1 paper
NM_000266.4
p.V79G
c.236T>G
1 paper
NM_000266.4
p.T83T
c.249T>A
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