Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.A625S

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.A625S
c.1873G>T
Surrounding Variants
1 paper
NM_000257.4
p.Y624*
c.1872T>G
1 paper
NM_000257.4
p.Y624*
c.1872T>A
6 papers
NM_000257.4
p.Y624C
c.1871A>G
1 paper
NM_000257.4
p.Y624H
c.1870T>C
4 papers
NM_000257.4
p.Y624N
c.1870T>A
3 papers
NM_000257.4
p.N623S
c.1868A>G
2 papers
NM_000257.4
p.A627V
c.1880C>T
1 paper
NM_000257.4
p.D628fs
c.1882_1883fs
1 paper
NM_000257.4
p.D628N
c.1882G>A
1 paper
NM_000257.4
p.D628Fs
c.1884delinsACFs
1 paper
NM_000257.4
p.L620fs
c.1858_1859fs
1 paper
NM_000257.4
p.L620delFs
c.1858_1859delAG
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