Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.N602K

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.N602K
c.1806T>G
Surrounding Variants
1 paper
NM_000257.4
p.N602K
c.1806T>A
2 papers
NM_000257.4
p.E603K
c.1807G>A
3 papers
NM_000257.4
p.N602S
c.1805A>G
3 papers
NM_000257.4
p.N602Y
c.1804A>T
1 paper
NM_000257.4
p.T604A
c.1810A>G
4 papers
NM_000257.4
p.L601F
c.1801C>T
3 papers
NM_000257.4
p.L601V
c.1801C>G
4 papers
NM_000257.4
p.P600S
c.1798C>T
1 paper
NM_000257.4
p.V606L
c.1816G>T
1 paper
NM_000257.4
p.V606L
c.1816G>C
143 papers
NM_000257.4
p.V606M
c.1816G>A
1 paper
NM_000257.4
p.K598insFs
c.1793dupA
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