Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.L108P

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
12 papers
NM_000266.4
p.L108P
c.323T>C
Surrounding Variants
1 paper
NM_000266.4
p.L108fs
c.322_323fs
1 paper
NM_000266.4
p.R107delFs
c.321delC
4 papers
NM_000266.4
p.R109*
c.325C>T
1 paper
NM_000266.4
p.R107fs
c.319_320fs
1 paper
NM_000266.4
p.R107R
c.319C>A
10 papers
NM_000266.4
p.C110G
c.328T>G
4 papers
NM_000266.4
p.C110R
c.328T>C
1 paper
NM_000266.4
p.C110S
c.328T>A
6 papers
NM_000266.4
p.L106P
c.317T>C
1 paper
NM_000266.4
p.C110F
c.329G>T
1 paper
NM_000266.4
p.C110S
c.329G>C
1 paper
NM_000266.4
p.C110Y
c.329G>A
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