Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.A1885_E1886Splc

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.A1885_E1886Splc
c.5655+21C>T
Surrounding Variants
3 papers
NM_000257.4
p.A1885_E1886Splc
c.5655+32G>A
2 papers
NM_000257.4
p.A1885_E1886Splc
c.5655+5G>C
2 papers
NM_000257.4
p.A1885_E1886Splc
c.5655+5G>A
2 papers
NM_000257.4
p.A1885_E1886Splc
c.5655+4A>T
1 paper
NM_000257.4
p.A1885_E1886Splc
c.5655+1G>T
1 paper
NM_000257.4
p.A1885_E1886Splc
c.5655+1G>C
3 papers
NM_000257.4
p.A1885_E1886Splc
c.5655+1G>A
1 paper
NM_000257.4
p.A1885A
c.5655G>C
8 papers
NM_000257.4
p.A1885A
c.5655G>A
1 paper
NM_000257.4
p.A1885V
c.5654C>T
39 papers
NM_000257.4
p.E1883K
c.5647G>A
1 paper
NM_000257.4
p.R1880L
c.5639G>T
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