Varaico: Literature-Extracted Genetic Variants

Gene:NODAL
Variant:p.R302C

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
5 papers
NM_018055.5
p.R302C
c.904C>T
Surrounding Variants
1 paper
NM_018055.5
p.H306Y
c.916C>T
1 paper
NM_018055.5
p.Q297_S298Splc
c.892-1G>T
3 papers
NM_018055.5
p.Q297_S298Splc
c.892-1G>C
1 paper
NM_018055.5
p.R307*
c.919C>T
1 paper
NM_018055.5
p.R307Q
c.920G>A
1 paper
NM_018055.5
p.P315L
c.944C>T
1 paper
NM_018055.5
p.D327E
c.981T>G
1 paper
NM_018055.5
p.D327E
c.981T>A
1 paper
NM_018055.5
p.R330T
c.989G>C
2 papers
NM_018055.5
p.M339V
c.1015A>G
1 paper
NM_018055.5
p.M339T
c.1016T>C
1 paper
NM_018055.5
p.I340T
c.1019T>C
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