Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.A105V

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.A105V
c.314C>T
Surrounding Variants
6 papers
NM_000266.4
p.A105E
c.314C>A
1 paper
NM_000266.4
p.A105delins
c.313_314delinsTT
6 papers
NM_000266.4
p.A105P
c.313G>C
12 papers
NM_000266.4
p.A105T
c.313G>A
2 papers
NM_000266.4
p.K104N
c.312G>T
2 papers
NM_000266.4
p.K104N
c.312G>C
6 papers
NM_000266.4
p.L106P
c.317T>C
2 papers
NM_000266.4
p.K104E
c.310A>G
8 papers
NM_000266.4
p.K104Q
c.310A>C
1 paper
NM_000266.4
p.R107fs
c.319_320fs
1 paper
NM_000266.4
p.R107R
c.319C>A
4 papers
NM_000266.4
p.L103Q
c.308T>A
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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."