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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TGFB1

Variant:p.Y81*

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr19:41352802 G>C

NM_000660.7

p.Y81*

c.243C>G

TGFb_propeptide

exact variant not in gnomAD13 overlapping SVs

Surrounding Variants

1 paper

chr19:41352802 G>T

NM_000660.7

p.Y81*

c.243C>A

TGFb_propeptide

exact variant not in gnomAD13 overlapping SVs

2 papers

chr19:41352803 T>A

NM_000660.7

p.Y81F

c.242A>T

TGFb_propeptide

exact variant not in gnomAD13 overlapping SVs

1 paper

chr19:41352801 T>A

NM_000660.7

p.N82Y

c.244A>T

TGFb_propeptide

Exome: n/aGenome: 0.0% (AC=1, hom=0)13 overlapping SVs

22 papers

chr19:41352804 A>G

NM_000660.7

p.Y81H

c.241T>C

TGFb_propeptide

Exome: 0.0% (AC=1, hom=0)Genome: n/a13 overlapping SVs

1 paper

chr19:41352805 C>T

NM_000660.7

p.L80L

c.240G>A

TGFb_propeptide

Exome: 0.0% (AC=57, hom=0)Genome: 0.0% (AC=4, hom=0)13 overlapping SVs

1 paper

chr19:41352797 C>A

NM_000660.7

p.S83I

c.248G>T

TGFb_propeptide

exact variant not in gnomAD13 overlapping SVs

1 paper

chr19:41352796 G>A

NM_000660.7

p.S83S

c.249C>T

TGFb_propeptide

Exome: 0.0% (AC=1, hom=0)Genome: n/a13 overlapping SVs

1 paper

chr19:41352795 T>A

NM_000660.7

p.T84S

c.250A>T

TGFb_propeptide

Exome: 0.0% (AC=1, hom=0)Genome: n/a13 overlapping SVs

1 paper

chr19:41352813 G>A

NM_000660.7

p.L78F

c.232C>T

TGFb_propeptide

exact variant not in gnomAD13 overlapping SVs

1 paper

chr19:41352789 C>A

NM_000660.7

p.D86Y

c.256G>T

TGFb_propeptide

Exome: 0.0% (AC=24, hom=1)Genome: 0.0% (AC=4, hom=0)13 overlapping SVs

2 papers

chr19:41352787 G>A

NM_000660.7

p.D86D

c.258C>T

TGFb_propeptide

Exome: 0.0% (AC=1, hom=0)Genome: n/a13 overlapping SVs

1 paper

chr19:41352818 G>A

NM_000660.7

p.A76V

c.227C>T

TGFb_propeptide

exact variant not in gnomAD13 overlapping SVs

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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."