Varaico: Literature-Extracted Genetic Variants

Gene:TGFB1
Variant:p.Q172_K173Splc

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.Q172_K173Splc
c.516+1G>A
Surrounding Variants
2 papers
NM_000660.7
p.Y171C
c.512A>G
3 papers
NM_000660.7
p.Y171H
c.511T>C
1 paper
NM_000660.7
p.L170R
c.509T>G
22 papers
NM_000660.7
p.L170P
c.509T>C
1 paper
NM_000660.7
p.L170L
c.508C>T
1 paper
NM_000660.7
p.E169V
c.506A>T
7 papers
NM_000660.7
p.E169K
c.505G>A
1 paper
NM_000660.7
p.R159M
c.476G>T
1 paper
NM_000660.7
p.L157L
c.471G>A
3 papers
NM_000660.7
p.L157M
c.469C>A
2 papers
NM_000660.7
p.R156H
c.467G>A
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."