Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.R107R

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.R107R
c.319C>A
Surrounding Variants
1 paper
NM_000266.4
p.R107fs
c.319_320fs
6 papers
NM_000266.4
p.L106P
c.317T>C
1 paper
NM_000266.4
p.L108fs
c.322_323fs
1 paper
NM_000266.4
p.R107delFs
c.321delC
12 papers
NM_000266.4
p.L108P
c.323T>C
1 paper
NM_000266.4
p.A105V
c.314C>T
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
4 papers
NM_000266.4
p.R109*
c.325C>T
2 papers
NM_000266.4
p.K104N
c.312G>T
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."