Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.N391T

MYH7

2,286 papers

RefSeq Summary

Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit o...

Pfam Domains

Myosin_Naa 32–76UCSCMyosin N-terminal SH3-like domain
Myosin_headaa 87–766UCSCMyosin head (motor domain)
Myosin_tail_1aa 843–1924UCSCMyosin tail

Gene Aliases

HGNC Name

myosin heavy chain 7

HGNC Previous Symbols

CMH1; MPD1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000257.4
p.N391T
c.1172A>C
Surrounding Variants
1 paper
NM_000257.4
p.N391S
c.1172A>G
1 paper
NM_000257.4
p.S392T
c.1174T>A
1 paper
NM_000257.4
p.L390delins
c.1168_1170delinsGTT
9 papers
NM_000257.4
p.L390P
c.1169T>C
9 papers
NM_000257.4
p.L390V
c.1168C>G
1 paper
NM_000257.4
p.G389V
c.1166G>T
4 papers
NM_000257.4
p.G389E
c.1166G>A
4 papers
NM_000257.4
p.A393V
c.1178C>T
1 paper
NM_000257.4
p.G389R
c.1165G>C
1 paper
NM_000257.4
p.G389R
c.1165G>A
7 papers
NM_000257.4
p.D394N
c.1180G>A
3 papers
NM_000257.4
p.M388T
c.1163T>C
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