Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.I462T

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
1 paper
NM_000257.4
p.I462T
c.1385T>C
Surrounding Variants
1 paper
NM_000257.4
p.I462F
c.1384A>T
2 papers
NM_000257.4
p.A463D
c.1388C>A
3 papers
NM_000257.4
p.D461N
c.1381G>A
1 paper
NM_000257.4
p.V459delFs
c.1377delG
1 paper
NM_000257.4
p.G464A
c.1391G>C
2 papers
NM_000257.4
p.V459I
c.1375G>A
1 paper
NM_000257.4
p.F465F
c.1395C>T
1 paper
NM_000257.4
p.E466Q
c.1396G>C
1 paper
NM_000257.4
p.I457_G458delFs
c.1369_1372del4
1 paper
NM_000257.4
p.E466D
c.1398G>T
1 paper
NM_000257.4
p.F456_I457ins0
c.1366_1371dup6
3 papers
NM_000257.4
p.I457M
c.1371A>G
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