Varaico: Literature-Extracted Genetic Variants

Gene:TGFB1

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
1–12 of 400 variants
135 papers
NM_000660.7
p.R25P
c.74G>C
84 papers
NM_000660.7
p.P10L
c.29C>T
84 papers
NM_000660.7
p.R267K
c.800G>A
74 papers
NM_000660.7
p.T263I
c.788C>T
62 papers
NM_000660.7
p.P3delFs
c.8delG
45 papers
NM_000660.7
p.R218C
c.652C>T
34 papers
NM_000660.7
p.S4P
c.10T>C
26 papers
NM_000660.7
p.R218H
c.653G>A
22 papers
NM_000660.7
p.Y81H
c.241T>C
22 papers
NM_000660.7
p.L170P
c.509T>C
22 papers
NM_000660.7
p.C225R
c.673T>C
17 papers
NM_000660.7
p.R156C
c.466C>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."