Varaico: Literature-Extracted Genetic Variants

Gene:TGFB1
Variant:p.S127N

TGFB1

1,279 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

TGFb_propeptideaa 30–261UCSCTGF-beta propeptide
TGF_betaaa 292–389UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

transforming growth factor beta 1

HGNC Previous Symbol

DPD1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000660.7
p.S127N
c.380G>A
Surrounding Variants
1 paper
NM_000660.7
p.S127G
c.379A>G
1 paper
NM_000660.7
p.K125R
c.374A>G
7 papers
NM_000660.7
p.H129H
c.387C>T
1 paper
NM_000660.7
p.H129Q
c.387C>G
1 paper
NM_000660.7
p.I131V
c.391A>G
1 paper
NM_000660.7
p.K123E
c.367A>G
1 paper
NM_000660.7
p.D122insFs
c.365_366insT
1 paper
NM_000660.7
p.F134S
c.401T>C
1 paper
NM_000660.7
p.F135L
c.405C>G
5 papers
NM_000660.7
p.E119Splc
c.356-2A>G
1 paper
NM_000660.7
p.E139Q
c.415G>C
1 paper
NM_000660.7
p.E139G
c.416A>G
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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."