Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.G202R

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.G202R
c.604G>A
Surrounding Variants
1 paper
NM_000257.4
p.G202E
c.605G>A
33 papers
NM_000257.4
p.I201T
c.602T>C
1 paper
NM_000257.4
p.I201N
c.602T>A
1 paper
NM_000257.4
p.D203N
c.607G>A
9 papers
NM_000257.4
p.A200V
c.599C>T
1 paper
NM_000257.4
p.A200D
c.599C>A
2 papers
NM_000257.4
p.A200P
c.598G>C
3 papers
NM_000257.4
p.A200T
c.598G>A
6 papers
NM_000257.4
p.R204C
c.610C>T
1 paper
NM_000257.4
p.R204S
c.610C>A
6 papers
NM_000257.4
p.R204L
c.611G>T
34 papers
NM_000257.4
p.R204H
c.611G>A
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