Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.Q1063H

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.Q1063H
c.3189G>C
Surrounding Variants
1 paper
NM_000257.4
p.Q1063H
c.3189G>T
2 papers
NM_000257.4
p.E1064*
c.3190G>T
2 papers
NM_000257.4
p.E1064K
c.3190G>A
1 paper
NM_000257.4
p.E1064A
c.3191A>C
1 paper
NM_000257.4
p.I1066F
c.3196A>T
1 paper
NM_000257.4
p.L1061L
c.3181C>T
2 papers
NM_000257.4
p.K1060M
c.3179A>T
3 papers
NM_000257.4
p.M1067T
c.3200T>C
1 paper
NM_000257.4
p.D1058N
c.3172G>A
8 papers
NM_000257.4
p.G1057D
c.3170G>A
2 papers
NM_000257.4
p.E1070K
c.3208G>A
14 papers
NM_000257.4
p.G1057S
c.3169G>A
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