Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.R869H

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
46 papers
NM_000257.4
p.R869H
c.2606G>A
Surrounding Variants
2 papers
NM_000257.4
p.R869L
c.2606G>T
7 papers
NM_000257.4
p.R869P
c.2606G>C
19 papers
NM_000257.4
p.R869C
c.2605C>T
14 papers
NM_000257.4
p.R869G
c.2605C>G
3 papers
NM_000257.4
p.R869S
c.2605C>A
44 papers
NM_000257.4
p.R870C
c.2608C>T
5 papers
NM_000257.4
p.R870L
c.2609G>T
82 papers
NM_000257.4
p.R870H
c.2609G>A
1 paper
NM_000257.4
p.R870delins
c.2608_2609delinsTT
10 papers
NM_000257.4
p.A868P
c.2602G>C
1 paper
NM_000257.4
p.K871R
c.2612A>G
1 paper
NM_000257.4
p.K871N
c.2613G>T
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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."