Varaico: Literature-Extracted Genetic Variants

Gene:TGFB1
Variant:p.P99insFs

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.P99insFs
c.296_297insC
Surrounding Variants
2 papers
NM_000660.7
p.E100K
c.298G>A
1 paper
NM_000660.7
p.E98D
c.294G>T
1 paper
NM_000660.7
p.E98D
c.294G>C
1 paper
NM_000660.7
p.E98G
c.293A>G
1 paper
NM_000660.7
p.P97L
c.290C>T
4 papers
NM_000660.7
p.Y103C
c.308A>G
1 paper
NM_000660.7
p.Y104Y
c.312C>T
1 paper
NM_000660.7
p.A105S
c.313G>T
2 papers
NM_000660.7
p.A105V
c.314C>T
1 paper
NM_000660.7
p.G90_S92delFs
c.270_276del7
1 paper
NM_000660.7
p.E107K
c.319G>A
1 paper
NM_000660.7
p.E91*
c.271G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."