Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.A259E

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.A259E
c.776C>A
Surrounding Variants
1 paper
NM_000257.4
p.L258F
c.774G>T
1 paper
NM_000257.4
p.L258F
c.774G>C
1 paper
NM_000257.4
p.L258L
c.774G>A
1 paper
NM_000257.4
p.L258L
c.772T>C
2 papers
NM_000257.4
p.A261T
c.781G>A
1 paper
NM_000257.4
p.K257K
c.771G>A
1 paper
NM_000257.4
p.G253_G256del4
c.757_767del12
1 paper
NM_000257.4
p.D262N
c.784G>A
42 papers
NM_000257.4
p.G256E
c.767G>A
1 paper
NM_000257.4
p.I263V
c.787A>G
2 papers
NM_000257.4
p.I263R
c.788T>G
33 papers
NM_000257.4
p.I263T
c.788T>C
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