Varaico: Literature-Extracted Genetic Variants

Gene:MSTN
Variant:p.C313Y

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
39 papers
NM_005259.3
p.C313Y
c.938G>A
Surrounding Variants
1 paper
NM_005259.3
p.E314*
c.940G>T
1 paper
NM_005259.3
p.L318L
c.952T>C
1 paper
NM_005259.3
p.L318*
c.953T>A
1 paper
NM_005259.3
p.K320E
c.958A>G
1 paper
NM_005259.3
p.K320delFs
c.960delT
1 paper
NM_005259.3
p.P322S
c.964C>T
1 paper
NM_005259.3
p.T324I
c.971C>T
1 paper
NM_005259.3
p.P301S
c.901C>T
1 paper
NM_005259.3
p.V327V
c.981A>G
1 paper
NM_005259.3
p.P332R
c.995C>G
5 papers
NM_005259.3
p.F293L
c.879T>A
1 paper
NM_005259.3
p.F293I
c.877T>A
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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."