Varaico: Literature-Extracted Genetic Variants

Gene:MSTN
Variant:p.E226*

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
17 papers
NM_005259.3
p.E226*
c.676G>T
Surrounding Variants
17 papers
NM_005259.3
p.I225T
c.674T>C
1 paper
NM_005259.3
p.I225F
c.673A>T
1 paper
NM_005259.3
p.E220*
c.658G>T
1 paper
NM_005259.3
p.G234A
c.701G>C
1 paper
NM_005259.3
p.D236D
c.708T>C
1 paper
NM_005259.3
p.W215R
c.643T>C
1 paper
NM_005259.3
p.W215R
c.643T>A
1 paper
NM_005259.3
p.L237F
c.709C>T
2 papers
NM_005259.3
p.L237I
c.709C>A
1 paper
NM_005259.3
p.G243E
c.728G>A
1 paper
NM_005259.3
p.I206T
c.617T>C
1 paper
NM_005259.3
p.I206V
c.616A>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."