Varaico: Literature-Extracted Genetic Variants

Gene:MSTN
Variant:p.A55T

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
20 papers
NM_005259.3
p.A55T
c.163G>A
Surrounding Variants
1 paper
NM_005259.3
p.A55P
c.163G>C
1 paper
NM_005259.3
p.I56N
c.167T>A
1 paper
NM_005259.3
p.I53I
c.159A>T
1 paper
NM_005259.3
p.I53K
c.158T>A
1 paper
NM_005259.3
p.I53L
c.157A>T
1 paper
NM_005259.3
p.R52K
c.155G>A
1 paper
NM_005259.3
p.I58R
c.173T>G
1 paper
NM_005259.3
p.S51S
c.153A>C
2 papers
NM_005259.3
p.S50P
c.148T>C
1 paper
NM_005259.3
p.I60T
c.179T>C
1 paper
NM_005259.3
p.K49T
c.146A>C
1 paper
NM_005259.3
p.L61R
c.182T>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."