Varaico: Literature-Extracted Genetic Variants

Gene:MSTN
Variant:p.I177I

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.I177I
c.531C>T
Surrounding Variants
2 papers
NM_005259.3
p.M180R
c.539T>G
1 paper
NM_005259.3
p.M180I
c.540G>T
1 paper
NM_005259.3
p.M180I
c.540G>C
1 paper
NM_005259.3
p.M180I
c.540G>A
1 paper
NM_005259.3
p.I173I
c.519C>T
5 papers
NM_005259.3
p.D182N
c.544G>A
1 paper
NM_005259.3
p.T168K
c.503C>A
1 paper
NM_005259.3
p.G188R
c.562G>A
1 paper
NM_005259.3
p.T167A
c.499A>G
1 paper
NM_005259.3
p.I189T
c.566T>C
1 paper
NM_005259.3
p.T165T
c.495T>C
1 paper
NM_005259.3
p.E164G
c.491A>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."