Varaico: Literature-Extracted Genetic Variants

Gene:MSTN
Variant:p.E36K

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.E36K
c.106G>A
Surrounding Variants
2 papers
NM_005259.3
p.E34G
c.101A>G
1 paper
NM_005259.3
p.L38L
c.112C>T
4 papers
NM_005259.3
p.N40_A41insFs
c.120_121insA
3 papers
NM_005259.3
p.K30delFs
c.90delT
1 paper
NM_005259.3
p.C42C
c.126T>C
2 papers
NM_005259.3
p.C42del1
c.124_125delACA
1 paper
NM_005259.3
p.E28E
c.84G>A
2 papers
NM_005259.3
p.T43T
c.129T>C
2 papers
NM_005259.3
p.E28G
c.83A>G
1 paper
NM_005259.3
p.S27insFs
c.79_80insA
1 paper
NM_005259.3
p.S27N
c.80G>A
1 paper
NM_005259.3
p.N26N
c.78C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."