Varaico: Literature-Extracted Genetic Variants

Gene:TGFB1
Variant:p.R267K

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
84 papers
NM_000660.7
p.R267K
c.800G>A
Surrounding Variants
1 paper
NM_000660.7
p.R267R
c.801G>A
1 paper
NM_000660.7
p.R267R
c.799A>C
1 paper
NM_000660.7
p.A268D
c.803C>A
1 paper
NM_000660.7
p.L265L
c.793C>T
1 paper
NM_000660.7
p.H270_L271insA
c.808_812ins3
1 paper
NM_000660.7
p.P264L
c.791C>T
74 papers
NM_000660.7
p.T263I
c.788C>T
1 paper
NM_000660.7
p.T263N
c.788C>A
1 paper
NM_000660.7
p.L271delFs
c.812delA
1 paper
NM_000660.7
p.A262G
c.785C>G
1 paper
NM_000660.7
p.S273I
c.818G>T
11 papers
NM_000660.7
p.S273S
c.819C>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."