Varaico: Literature-Extracted Genetic Variants

Gene:TGFB1
Variant:p.L150F

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.L150F
c.448C>T
Surrounding Variants
1 paper
NM_000660.7
p.L150P
c.449T>C
2 papers
NM_000660.7
p.L149F
c.447G>C
1 paper
NM_000660.7
p.V148A
c.443T>C
2 papers
NM_000660.7
p.R152W
c.454C>T
7 papers
NM_000660.7
p.R152Q
c.455G>A
1 paper
NM_000660.7
p.P147L
c.440C>T
1 paper
NM_000660.7
p.A153T
c.457G>A
1 paper
NM_000660.7
p.P147S
c.439C>T
1 paper
NM_000660.7
p.A153A
c.459A>G
1 paper
NM_000660.7
p.L155L
c.463C>T
17 papers
NM_000660.7
p.R156C
c.466C>T
2 papers
NM_000660.7
p.R156H
c.467G>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."