Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.A1702A

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.A1702A
c.5106G>A
Surrounding Variants
1 paper
NM_000257.4
p.A1702V
c.5105C>T
1 paper
NM_000257.4
p.K1700_L1701del2
c.5098_5102del6
3 papers
NM_000257.4
p.Q1704*
c.5110C>T
1 paper
NM_000257.4
p.K1700E
c.5098A>G
2 papers
NM_000257.4
p.R1699Q
c.5096G>A
1 paper
NM_000257.4
p.L1706V
c.5116C>G
13 papers
NM_000257.4
p.L1706P
c.5117T>C
1 paper
NM_000257.4
p.I1707F
c.5119A>T
2 papers
NM_000257.4
p.I1707T
c.5120T>C
5 papers
NM_000257.4
p.R1697Q
c.5090G>A
3 papers
NM_000257.4
p.E1708K
c.5122G>A
1 paper
NM_000257.4
p.R1697W
c.5089C>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."