Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.E1829G

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.E1829G
c.5486A>G
Surrounding Variants
2 papers
NM_000257.4
p.E1829K
c.5485G>A
1 paper
NM_000257.4
p.A1828S
c.5482G>T
1 paper
NM_000257.4
p.A1828T
c.5482G>A
1 paper
NM_000257.4
p.E1827*
c.5479G>T
8 papers
NM_000257.4
p.R1832C
c.5494C>T
4 papers
NM_000257.4
p.R1832G
c.5494C>G
1 paper
NM_000257.4
p.R1832S
c.5494C>A
5 papers
NM_000257.4
p.R1832H
c.5495G>A
1 paper
NM_000257.4
p.L1826M
c.5476C>A
1 paper
NM_000257.4
p.E1825D
c.5475G>T
1 paper
NM_000257.4
p.E1825D
c.5475G>C
1 paper
NM_000257.4
p.N1833N
c.5499C>T
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