Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.K102E

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
3 papers
NM_000266.4
p.K102E
c.304A>G
Surrounding Variants
6 papers
NM_000266.4
p.S101F
c.302C>T
1 paper
NM_000266.4
p.Q99_T100del0
c.295_300del6
1 paper
NM_000266.4
p.L103L
c.307C>T
5 papers
NM_000266.4
p.L103V
c.307C>G
4 papers
NM_000266.4
p.L103Q
c.308T>A
2 papers
NM_000266.4
p.K104E
c.310A>G
8 papers
NM_000266.4
p.K104Q
c.310A>C
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.A105P
c.313G>C
12 papers
NM_000266.4
p.A105T
c.313G>A
1 paper
NM_000266.4
p.Q99*
c.295C>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."