Varaico: Literature-Extracted Genetic Variants

Gene:MSTN
Variant:p.V21V

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.V21V
c.63G>A
Surrounding Variants
1 paper
NM_005259.3
p.P20P
c.60A>G
1 paper
NM_005259.3
p.G19R
c.55G>C
1 paper
NM_005259.3
p.A18A
c.54T>C
1 paper
NM_005259.3
p.E25K
c.73G>A
1 paper
NM_005259.3
p.E25insFs
c.74_75insG
1 paper
NM_005259.3
p.V17A
c.50T>C
1 paper
NM_005259.3
p.N26N
c.78C>T
1 paper
NM_005259.3
p.S27insFs
c.79_80insA
1 paper
NM_005259.3
p.S27N
c.80G>A
2 papers
NM_005259.3
p.E28G
c.83A>G
1 paper
NM_005259.3
p.E28E
c.84G>A
3 papers
NM_005259.3
p.F13F
c.39T>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."