Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.S14_V17delFs

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.S14_V17delFs
c.40_49del10
Surrounding Variants
2 papers
NM_000266.4
p.V17insFs
c.50dupT
1 paper
NM_000266.4
p.V17delFs
c.49delC
7 papers
NM_000266.4
p.I18K
c.53T>A
1 paper
NM_000266.4
p.V17fs
c.49_50fs
3 papers
NM_000266.4
p.L16P
c.47T>C
1 paper
NM_000266.4
p.G20R
c.58G>C
3 papers
NM_000266.4
p.G20R
c.58G>A
1 paper
NM_000266.4
p.S14S
c.42C>T
1 paper
NM_000266.4
p.S9_S14delFs
c.25_40del16
1 paper
NM_000266.4
p.L13L
c.39C>T
1 paper
NM_000266.4
p.L13insFs
c.37dupC
7 papers
NM_000266.4
p.L13R
c.38T>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."