Varaico: Literature-Extracted Genetic Variants

Gene:TGFB1
Variant:p.S273I

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.S273I
c.818G>T
Surrounding Variants
11 papers
NM_000660.7
p.S273S
c.819C>T
1 paper
NM_000660.7
p.L271delFs
c.812delA
1 paper
NM_000660.7
p.R275W
c.823C>T
1 paper
NM_000660.7
p.H270_L271insA
c.808_812ins3
1 paper
NM_000660.7
p.R277C
c.829C>T
1 paper
NM_000660.7
p.H270_H276del7
c.808_827del21
1 paper
NM_000660.7
p.R277R
c.831C>G
1 paper
NM_000660.7
p.R278Q
c.833G>A
1 paper
NM_000660.7
p.A268D
c.803C>A
1 paper
NM_000660.7
p.A279T
c.835G>A
1 paper
NM_000660.7
p.R267R
c.801G>A
84 papers
NM_000660.7
p.R267K
c.800G>A
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