Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.R1820W

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
10 papers
NM_000257.4
p.R1820W
c.5458C>T
Surrounding Variants
6 papers
NM_000257.4
p.R1820Q
c.5459G>A
6 papers
NM_000257.4
p.R1818W
c.5452C>T
1 paper
NM_000257.4
p.L1822P
c.5465T>C
4 papers
NM_000257.4
p.A1817V
c.5450C>T
1 paper
NM_000257.4
p.A1817T
c.5449G>A
7 papers
NM_000257.4
p.N1824D
c.5470A>G
8 papers
NM_000257.4
p.N1824S
c.5471A>G
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.L1826M
c.5476C>A
1 paper
NM_000257.4
p.K1814E
c.5440A>G
1 paper
NM_000257.4
p.E1827*
c.5479G>T
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