Varaico: Literature-Extracted Genetic Variants

Gene:TGFB1
Variant:p.L8V

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.L8V
c.22C>G
Surrounding Variants
2 papers
NM_000660.7
p.R7Q
c.20G>A
6 papers
NM_000660.7
p.L9V
c.25C>G
1 paper
NM_000660.7
p.L6L
c.18G>T
2 papers
NM_000660.7
p.L6L
c.18G>A
1 paper
NM_000660.7
p.L9L
c.27G>A
3 papers
NM_000660.7
p.L6L
c.16C>T
1 paper
NM_000660.7
p.P10A
c.28C>G
1 paper
NM_000660.7
p.P10insFs
c.28_29insTG
84 papers
NM_000660.7
p.P10L
c.29C>T
1 paper
NM_000660.7
p.P10R
c.29C>G
1 paper
NM_000660.7
p.P10insFs
c.29_30insT
1 paper
NM_000660.7
p.G5V
c.14G>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."