Varaico: Literature-Extracted Genetic Variants

Gene:NODAL
Variant:p.L129*

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
1 paper
NM_018055.5
p.L129*
c.386T>G
Surrounding Variants
1 paper
NM_018055.5
p.L129*
c.386T>A
2 papers
NM_018055.5
p.Q133*
c.397C>T
2 papers
NM_018055.5
p.D120N
c.358G>A
1 paper
NM_018055.5
p.P119L
c.356C>T
1 paper
NM_018055.5
p.S142F
c.425C>T
1 paper
NM_018055.5
p.V144I
c.430G>A
1 paper
NM_018055.5
p.M151K
c.452T>A
1 paper
NM_018055.5
p.L153delFs
c.458delA
1 paper
NM_018055.5
p.P158T
c.472C>A
1 paper
NM_018055.5
p.L163L
c.487C>T
10 papers
NM_018055.5
p.H165R
c.494A>G
1 paper
NM_018055.5
p.P158_H165del8
c.472_494del24
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