Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.R904C

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
23 papers
NM_000257.4
p.R904C
c.2710C>T
Surrounding Variants
1 paper
NM_000257.4
p.R904G
c.2710C>G
2 papers
NM_000257.4
p.R904L
c.2711G>T
1 paper
NM_000257.4
p.R904P
c.2711G>C
22 papers
NM_000257.4
p.R904H
c.2711G>A
5 papers
NM_000257.4
p.E903G
c.2708A>G
7 papers
NM_000257.4
p.C905R
c.2713T>C
9 papers
NM_000257.4
p.E903Q
c.2707G>C
5 papers
NM_000257.4
p.E903K
c.2707G>A
4 papers
NM_000257.4
p.C905F
c.2714G>T
1 paper
NM_000257.4
p.E902D
c.2706G>T
1 paper
NM_000257.4
p.E902D
c.2706G>C
1 paper
NM_000257.4
p.C905Y
c.2714G>A
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