Varaico: Literature-Extracted Genetic Variants

Gene:MSTN
Variant:p.S101C

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.S101C
c.301A>T
Surrounding Variants
2 papers
NM_005259.3
p.D100A
c.299A>C
1 paper
NM_005259.3
p.D99A
c.296A>C
1 paper
NM_005259.3
p.D103A
c.308A>C
1 paper
NM_005259.3
p.S105A
c.313T>G
1 paper
NM_005259.3
p.S105F
c.314C>T
6 papers
NM_005259.3
p.S105C
c.314C>G
1 paper
NM_005259.3
p.S105S
c.315T>G
1 paper
NM_005259.3
p.V96A
c.287T>C
1 paper
NM_005259.3
p.D95A
c.284A>C
1 paper
NM_005259.3
p.D95H
c.283G>C
1 paper
NM_005259.3
p.E107A
c.320A>C
1 paper
NM_005259.3
p.Y94F
c.281A>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."