Varaico: Literature-Extracted Genetic Variants

Gene:TGFB1
Variant:p.V114M

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
2 papers
NM_000660.7
p.V114M
c.340G>A
Surrounding Variants
2 papers
NM_000660.7
p.L112L
c.334C>T
1 paper
NM_000660.7
p.T116S
c.346A>T
1 paper
NM_000660.7
p.V111V
c.333G>C
1 paper
NM_000660.7
p.T116S
c.347C>G
3 papers
NM_000660.7
p.T116T
c.348C>T
1 paper
NM_000660.7
p.V111M
c.331G>A
1 paper
NM_000660.7
p.H117Y
c.349C>T
1 paper
NM_000660.7
p.H117D
c.349C>G
1 paper
NM_000660.7
p.H117R
c.350A>G
1 paper
NM_000660.7
p.R110H
c.329G>A
5 papers
NM_000660.7
p.R110C
c.328C>T
8 papers
NM_000660.7
p.T109T
c.327C>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."