Varaico: Literature-Extracted Genetic Variants

Gene:TGFB1
Variant:p.L6L

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
3 papers
NM_000660.7
p.L6L
c.16C>T
Surrounding Variants
1 paper
NM_000660.7
p.L6L
c.18G>T
1 paper
NM_000660.7
p.G5V
c.14G>T
7 papers
NM_000660.7
p.G5E
c.14G>A
2 papers
NM_000660.7
p.L6L
c.18G>A
2 papers
NM_000660.7
p.R7Q
c.20G>A
2 papers
NM_000660.7
p.S4delFs
c.10_11delGA
34 papers
NM_000660.7
p.S4P
c.10T>C
62 papers
NM_000660.7
p.P3delFs
c.8delG
1 paper
NM_000660.7
p.L8V
c.22C>G
2 papers
NM_000660.7
p.P3P
c.9C>T
1 paper
NM_000660.7
p.P3L
c.8C>T
2 papers
NM_000660.7
p.P3S
c.7C>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."