Varaico: Literature-Extracted Genetic Variants

Gene:MSTN
Variant:p.T117T

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.T117T
c.351A>G
Surrounding Variants
1 paper
NM_005259.3
p.I118I
c.354C>T
2 papers
NM_005259.3
p.E116G
c.347A>G
1 paper
NM_005259.3
p.T115S
c.343A>T
1 paper
NM_005259.3
p.T114R
c.341C>G
5 papers
NM_005259.3
p.H112Y
c.334C>T
2 papers
NM_005259.3
p.H112D
c.334C>G
1 paper
NM_005259.3
p.D110A
c.329A>C
1 paper
NM_005259.3
p.D109D
c.327C>T
2 papers
NM_005259.3
p.D109G
c.326A>G
2 papers
NM_005259.3
p.D109A
c.326A>C
1 paper
NM_005259.3
p.D109N
c.325G>A
1 paper
NM_005259.3
p.D108E
c.324T>G
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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."