Varaico: Literature-Extracted Genetic Variants

Gene:MSTN
Variant:p.F293L

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
5 papers
NM_005259.3
p.F293L
c.879T>A
Surrounding Variants
1 paper
NM_005259.3
p.F293I
c.877T>A
2 papers
NM_005259.3
p.A292S
c.874G>T
1 paper
NM_005259.3
p.A292T
c.874G>A
14 papers
NM_005259.3
p.E291*
c.871G>T
1 paper
NM_005259.3
p.S279_D289del11
c.835_866del33
1 paper
NM_005259.3
p.T287T
c.861T>A
1 paper
NM_005259.3
p.P301S
c.901C>T
1 paper
NM_005259.3
p.S279L
c.836C>T
1 paper
NM_005259.3
p.E278E
c.834A>G
2 papers
NM_005259.3
p.E274_T277delFs
c.821_831del11
2 papers
NM_005259.3
p.D273_S276delFs
c.818_828del11
1 paper
NM_005259.3
p.E274G
c.821A>G
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