Varaico: Literature-Extracted Genetic Variants

Gene:MSTN
Variant:p.D267A

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.D267A
c.800A>C
Surrounding Variants
1 paper
NM_005259.3
p.D267N
c.799G>A
2 papers
NM_005259.3
p.G269R
c.805G>C
1 paper
NM_005259.3
p.L270L
c.810T>C
2 papers
NM_005259.3
p.K262E
c.784A>G
1 paper
NM_005259.3
p.P261insFs
c.782_783insT
1 paper
NM_005259.3
p.D273fs
c.817_818fs
5 papers
NM_005259.3
p.E274*
c.820G>T
1 paper
NM_005259.3
p.E274G
c.821A>G
2 papers
NM_005259.3
p.D273_S276delFs
c.818_828del11
1 paper
NM_005259.3
p.V257I
c.769G>A
2 papers
NM_005259.3
p.E274_T277delFs
c.821_831del11
1 paper
NM_005259.3
p.E278E
c.834A>G
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