Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.L1681R

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.L1681R
c.5042T>G
Surrounding Variants
8 papers
NM_000257.4
p.R1677H
c.5030G>A
8 papers
NM_000257.4
p.R1677C
c.5029C>T
1 paper
NM_000257.4
p.R1676P
c.5027G>C
2 papers
NM_000257.4
p.R1676Q
c.5027G>A
3 papers
NM_000257.4
p.R1676W
c.5026C>T
1 paper
NM_000257.4
p.E1675G
c.5024A>G
4 papers
NM_000257.4
p.E1687del1
c.5059_5060delCTC
3 papers
NM_000257.4
p.V1674L
c.5020G>T
3 papers
NM_000257.4
p.V1674L
c.5020G>C
4 papers
NM_000257.4
p.V1674M
c.5020G>A
4 papers
NM_000257.4
p.R1689C
c.5065C>T
1 paper
NM_000257.4
p.R1689G
c.5065C>G
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