Varaico: Literature-Extracted Genetic Variants

Gene:TGFB1
Variant:p.R218C

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
45 papers
NM_000660.7
p.R218C
c.652C>T
Surrounding Variants
26 papers
NM_000660.7
p.R218H
c.653G>A
1 paper
NM_000660.7
p.G216fs
c.646_647fs
1 paper
NM_000660.7
p.G216D
c.647G>A
13 papers
NM_000660.7
p.H222D
c.664C>G
1 paper
NM_000660.7
p.H222N
c.664C>A
1 paper
NM_000660.7
p.E213D
c.639A>C
1 paper
NM_000660.7
p.E213G
c.638A>G
7 papers
NM_000660.7
p.C223G
c.667T>G
7 papers
NM_000660.7
p.C223R
c.667T>C
8 papers
NM_000660.7
p.C223S
c.667T>A
1 paper
NM_000660.7
p.H222delFs
c.666delG
9 papers
NM_000660.7
p.C223S
c.668G>C
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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."