Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.E1356K

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
55 papers
NM_000257.4
p.E1356K
c.4066G>A
Surrounding Variants
1 paper
NM_000257.4
p.E1356Q
c.4066G>C
1 paper
NM_000257.4
p.K1354R
c.4061A>G
1 paper
NM_000257.4
p.Q1358L
c.4073A>T
21 papers
NM_000257.4
p.R1359C
c.4075C>T
1 paper
NM_000257.4
p.R1359G
c.4075C>G
14 papers
NM_000257.4
p.R1359H
c.4076G>A
1 paper
NM_000257.4
p.R1359R
c.4077C>T
6 papers
NM_000257.4
p.V1360I
c.4078G>A
3 papers
NM_000257.4
p.V1360A
c.4079T>C
2 papers
NM_000257.4
p.T1351M
c.4052C>T
6 papers
NM_000257.4
p.E1350del1
c.4048_4049delCTC
6 papers
NM_000257.4
p.E1350K
c.4048G>A
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