Varaico: Literature-Extracted Genetic Variants

Gene:MSTN
Variant:p.Q204P

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.Q204P
c.611A>C
Surrounding Variants
35 papers
NM_005259.3
p.Q204*
c.610C>T
2 papers
NM_005259.3
p.W203R
c.607T>A
1 paper
NM_005259.3
p.I206V
c.616A>G
1 paper
NM_005259.3
p.I206T
c.617T>C
1 paper
NM_005259.3
p.T200S
c.599C>G
13 papers
NM_005259.3
p.P198A
c.592C>G
1 paper
NM_005259.3
p.N197S
c.590A>G
1 paper
NM_005259.3
p.D195N
c.583G>A
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.K193N
c.579A>C
1 paper
NM_005259.3
p.I189T
c.566T>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."