Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.Y386C

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
15 papers
NM_000257.4
p.Y386C
c.1157A>G
Surrounding Variants
4 papers
NM_000257.4
p.Y386H
c.1156T>C
7 papers
NM_000257.4
p.L387F
c.1159C>T
1 paper
NM_000257.4
p.Y386_L387delFs
c.1158_1159delGG
1 paper
NM_000257.4
p.A385V
c.1154C>T
3 papers
NM_000257.4
p.M388T
c.1163T>C
1 paper
NM_000257.4
p.S384Y
c.1151C>A
4 papers
NM_000257.4
p.K383N
c.1149G>T
4 papers
NM_000257.4
p.K383N
c.1149G>C
1 paper
NM_000257.4
p.G389R
c.1165G>C
1 paper
NM_000257.4
p.G389R
c.1165G>A
1 paper
NM_000257.4
p.G389V
c.1166G>T
4 papers
NM_000257.4
p.G389E
c.1166G>A
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