Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.L1477_S1478del2

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.L1477_S1478del2
c.4429_4433del6
Surrounding Variants
4 papers
NM_000257.4
p.T1479A
c.4435A>G
3 papers
NM_000257.4
p.T1479I
c.4436C>T
1 paper
NM_000257.4
p.E1480Q
c.4438G>C
2 papers
NM_000257.4
p.E1480G
c.4439A>G
1 paper
NM_000257.4
p.L1481F
c.4441C>T
3 papers
NM_000257.4
p.L1481P
c.4442T>C
2 papers
NM_000257.4
p.R1475H
c.4424G>A
6 papers
NM_000257.4
p.R1475C
c.4423C>T
1 paper
NM_000257.4
p.A1474D
c.4421C>A
1 paper
NM_000257.4
p.A1474T
c.4420G>A
3 papers
NM_000257.4
p.L1484P
c.4451T>C
2 papers
NM_000257.4
p.E1473G
c.4418A>G
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