Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.I736M

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
5 papers
NM_000257.4
p.I736M
c.2208T>G
Surrounding Variants
78 papers
NM_000257.4
p.I736T
c.2207T>C
1 paper
NM_000257.4
p.D737N
c.2209G>A
4 papers
NM_000257.4
p.I736V
c.2206A>G
1 paper
NM_000257.4
p.I736L
c.2206A>C
2 papers
NM_000257.4
p.S738C
c.2212A>T
6 papers
NM_000257.4
p.S738R
c.2212A>C
1 paper
NM_000257.4
p.G733_Q734del0
c.2197_2202del6
4 papers
NM_000257.4
p.S738T
c.2213G>C
2 papers
NM_000257.4
p.S738N
c.2213G>A
2 papers
NM_000257.4
p.F735fs
c.2203_2204fs
2 papers
NM_000257.4
p.Q734insFs
c.2201dupA
6 papers
NM_000257.4
p.S738R
c.2214C>G
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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."