Varaico: Literature-Extracted Genetic Variants

Gene:MSTN
Variant:p.Q147fs

MSTN

284 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 37–254UCSCTGF-beta propeptide
TGF_betaaa 280–374UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

myostatin

HGNC Previous Symbol

GDF8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005259.3
p.Q147fs
c.439_440fs
Surrounding Variants
1 paper
NM_005259.3
p.I146T
c.437T>C
1 paper
NM_005259.3
p.Y148C
c.443A>G
1 paper
NM_005259.3
p.K145K
c.435A>G
1 paper
NM_005259.3
p.V151L
c.451G>T
1 paper
NM_005259.3
p.V151L
c.451G>C
1 paper
NM_005259.3
p.F140_F142delFs
c.419_425del7
1 paper
NM_005259.3
p.F142F
c.426T>C
1 paper
NM_005259.3
p.K153E
c.457A>G
1 paper
NM_005259.3
p.F140L
c.420T>G
1 paper
NM_005259.3
p.F140L
c.420T>A
46 papers
NM_005259.3
p.K153R
c.458A>G
1 paper
NM_005259.3
p.F140L
c.418T>C
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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."