Varaico: Literature-Extracted Genetic Variants

Gene:NODAL
Variant:p.E203K

NODAL

105 papers

RefSeq Summary

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activat...

Pfam Domains

TGF_betaaa 246–346UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

nodal growth differentiation factor

HGNC Previous Names

nodal, mouse, homolog; nodal homolog (mouse)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_018055.5
p.E203K
c.607G>A
Surrounding Variants
2 papers
NM_018055.5
p.Q204H
c.612G>T
2 papers
NM_018055.5
p.Q204H
c.612G>C
1 paper
NM_018055.5
p.E215Q
c.643G>C
2 papers
NM_018055.5
p.P185insFs
c.555dupC
1 paper
NM_018055.5
p.P184delFs
c.552delG
1 paper
NM_018055.5
p.T186fs
c.556_557fs
1 paper
NM_018055.5
p.R221L
c.662G>T
2 papers
NM_018055.5
p.R221Q
c.662G>A
5 papers
NM_018055.5
p.R183Q
c.548G>A
1 paper
NM_018055.5
p.W181*
c.543G>A
1 paper
NM_018055.5
p.E224ins15
c.670_671ins45
1 paper
NM_018055.5
p.A177V
c.530C>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."