Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.A1012A

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.A1012A
c.3036C>T
Surrounding Variants
1 paper
NM_000257.4
p.A1012A
c.3036C>G
1 paper
NM_000257.4
p.E1013Q
c.3037G>C
1 paper
NM_000257.4
p.E1013K
c.3037G>A
3 papers
NM_000257.4
p.A1012D
c.3035C>A
1 paper
NM_000257.4
p.Q1011R
c.3032A>G
1 paper
NM_000257.4
p.L1010F
c.3028C>T
2 papers
NM_000257.4
p.K1016E
c.3046A>G
1 paper
NM_000257.4
p.D1008Y
c.3022G>T
1 paper
NM_000257.4
p.L1007V
c.3019C>G
1 paper
NM_000257.4
p.N1018S
c.3053A>G
2 papers
NM_000257.4
p.T1019A
c.3055A>G
2 papers
NM_000257.4
p.A1006T
c.3016G>A
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