Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.L116L

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.L116L
c.348C>T
Surrounding Variants
1 paper
NM_000266.4
p.G112_T117delFs
c.334_349del16
13 papers
NM_000266.4
p.R115L
c.344G>T
1 paper
NM_000266.4
p.A118S
c.352G>T
3 papers
NM_000266.4
p.R115*
c.343C>T
2 papers
NM_000266.4
p.R115G
c.343C>G
4 papers
NM_000266.4
p.A118D
c.353C>A
1 paper
NM_000266.4
p.A118A
c.354C>A
1 paper
NM_000266.4
p.R107_A118delFs
c.320_353del34
1 paper
NM_000266.4
p.G112_M114delFs
c.334_340del7
2 papers
NM_000266.4
p.T119P
c.355A>C
1 paper
NM_000266.4
p.M114fs
c.340_341fs
2 papers
NM_000266.4
p.G112delFs
c.334delC
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