Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.S1843G

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
5 papers
NM_000257.4
p.S1843G
c.5527A>G
Surrounding Variants
2 papers
NM_000257.4
p.S1843R
c.5527A>C
2 papers
NM_000257.4
p.S1843R
c.5529C>G
2 papers
NM_000257.4
p.S1843R
c.5529C>A
3 papers
NM_000257.4
p.E1844K
c.5530G>A
38 papers
NM_000257.4
p.R1845W
c.5533C>T
3 papers
NM_000257.4
p.R1845Q
c.5534G>A
4 papers
NM_000257.4
p.R1846C
c.5536C>T
1 paper
NM_000257.4
p.M1840L
c.5518A>T
1 paper
NM_000257.4
p.M1840L
c.5518A>C
3 papers
NM_000257.4
p.R1846H
c.5537G>A
1 paper
NM_000257.4
p.I1847F
c.5539A>T
1 paper
NM_000257.4
p.K1848T
c.5543A>C
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