Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.Q1370K

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
2 papers
NM_000257.4
p.Q1370K
c.4108C>A
Surrounding Variants
1 paper
NM_000257.4
p.A1369G
c.4106C>G
1 paper
NM_000257.4
p.V1368M
c.4102G>A
1 paper
NM_000257.4
p.A1369_R1372del4
c.4105_4115del12
1 paper
NM_000257.4
p.T1373I
c.4118C>T
2 papers
NM_000257.4
p.S1366L
c.4097C>T
6 papers
NM_000257.4
p.Y1375H
c.4123T>C
1 paper
NM_000257.4
p.N1365D
c.4093A>G
11 papers
NM_000257.4
p.Y1375C
c.4124A>G
4 papers
NM_000257.4
p.Y1375*
c.4125T>G
4 papers
NM_000257.4
p.Y1375*
c.4125T>A
1 paper
NM_000257.4
p.A1364P
c.4090G>C
2 papers
NM_000257.4
p.E1376K
c.4126G>A
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