Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.K1459N

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
47 papers
NM_000257.4
p.K1459N
c.4377G>T
Surrounding Variants
44 papers
NM_000257.4
p.K1459N
c.4377G>C
1 paper
NM_000257.4
p.E1461*
c.4381G>T
1 paper
NM_000257.4
p.Q1458*
c.4372C>T
1 paper
NM_000257.4
p.Q1458E
c.4372C>G
4 papers
NM_000257.4
p.E1462K
c.4384G>A
2 papers
NM_000257.4
p.S1463P
c.4387T>C
2 papers
NM_000257.4
p.W1456R
c.4366T>C
2 papers
NM_000257.4
p.W1456R
c.4366T>A
1 paper
NM_000257.4
p.S1463L
c.4388C>T
1 paper
NM_000257.4
p.Q1464*
c.4390C>T
1 paper
NM_000257.4
p.E1455G
c.4364A>G
7 papers
NM_000257.4
p.E1455*
c.4363G>T
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