Varaico: Literature-Extracted Genetic Variants

Gene:TGFB1
Variant:p.E47delFs

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.E47delFs
c.140delT
Surrounding Variants
5 papers
NM_000660.7
p.E47G
c.140A>G
1 paper
NM_000660.7
p.E47A
c.140A>C
1 paper
NM_000660.7
p.K34_E47delFs
c.102_139del38
1 paper
NM_000660.7
p.I46M
c.138C>G
1 paper
NM_000660.7
p.R45H
c.134G>A
2 papers
NM_000660.7
p.R45delFs
c.133delG
1 paper
NM_000660.7
p.R50C
c.148C>T
1 paper
NM_000660.7
p.R50P
c.149G>C
3 papers
NM_000660.7
p.R45C
c.133C>T
1 paper
NM_000660.7
p.R50R
c.150C>T
2 papers
NM_000660.7
p.K44insFs
c.131_132insC
1 paper
NM_000660.7
p.R43Q
c.128G>A
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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."