Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.E76Q

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.E76Q
c.226G>C
Surrounding Variants
1 paper
NM_000266.4
p.S75S
c.225C>T
1 paper
NM_000266.4
p.E76V
c.227A>T
2 papers
NM_000266.4
p.S75C
c.224C>G
4 papers
NM_000266.4
p.S75P
c.223T>C
1 paper
NM_000266.4
p.L78L
c.232T>C
1 paper
NM_000266.4
p.L78M
c.232T>A
8 papers
NM_000266.4
p.R74C
c.220C>T
5 papers
NM_000266.4
p.S73*
c.218C>G
5 papers
NM_000266.4
p.S73*
c.218C>A
1 paper
NM_000266.4
p.S73P
c.217T>C
1 paper
NM_000266.4
p.V79G
c.236T>G
1 paper
NM_000266.4
p.A72A
c.216G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."