Varaico: Literature-Extracted Genetic Variants

Gene:MSTN

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
1–12 of 199 variants
46 papers
NM_005259.3
p.K153R
c.458A>G
39 papers
NM_005259.3
p.C313Y
c.938G>A
35 papers
NM_005259.3
p.Q204*
c.610C>T
20 papers
NM_005259.3
p.A55T
c.163G>A
17 papers
NM_005259.3
p.I225T
c.674T>C
17 papers
NM_005259.3
p.E226*
c.676G>T
14 papers
NM_005259.3
p.E164K
c.490G>A
14 papers
NM_005259.3
p.E291*
c.871G>T
13 papers
NM_005259.3
p.P198A
c.592C>G
7 papers
NM_005259.3
p.S125Splc
c.373+5G>A
6 papers
NM_005259.3
p.S105C
c.314C>G
5 papers
NM_005259.3
p.H112Y
c.334C>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."