Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.Q1872P

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.Q1872P
c.5615A>C
Surrounding Variants
1 paper
NM_000257.4
p.Q1872R
c.5615A>G
1 paper
NM_000257.4
p.V1875F
c.5623G>T
2 papers
NM_000257.4
p.V1875A
c.5624T>C
5 papers
NM_000257.4
p.D1869G
c.5606A>G
1 paper
NM_000257.4
p.D1866A
c.5597A>C
1 paper
NM_000257.4
p.K1879R
c.5636A>G
4 papers
NM_000257.4
p.Q1865P
c.5594A>C
2 papers
NM_000257.4
p.R1880C
c.5638C>T
1 paper
NM_000257.4
p.R1880L
c.5639G>T
1 paper
NM_000257.4
p.R1880P
c.5639G>C
2 papers
NM_000257.4
p.R1880H
c.5639G>A
8 papers
NM_000257.4
p.R1863Q
c.5588G>A
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