Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.R37*

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.R37*
c.109C>T
Surrounding Variants
2 papers
NM_000266.4
p.R37Q
c.110G>A
9 papers
NM_000266.4
p.R38C
c.112C>T
1 paper
NM_000266.4
p.R38H
c.113G>A
1 paper
NM_000266.4
p.F30_D35delFs
c.88_104del17
1 paper
NM_000266.4
p.D35G
c.104A>G
3 papers
NM_000266.4
p.C39R
c.115T>C
1 paper
NM_000266.4
p.S34S
c.102G>A
1 paper
NM_000266.4
p.S34L
c.101C>T
1 paper
NM_000266.4
p.M40V
c.118A>G
3 papers
NM_000266.4
p.R41T
c.122G>C
9 papers
NM_000266.4
p.R41K
c.122G>A
2 papers
NM_000266.4
p.K25_M40del16
c.73_119del48
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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."