Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.M1840L

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.M1840L
c.5518A>T
Surrounding Variants
1 paper
NM_000257.4
p.M1840L
c.5518A>C
1 paper
NM_000257.4
p.V1837fs
c.5509_5510fs
5 papers
NM_000257.4
p.S1843G
c.5527A>G
2 papers
NM_000257.4
p.S1843R
c.5527A>C
11 papers
NM_000257.4
p.S1836L
c.5507C>T
2 papers
NM_000257.4
p.S1843R
c.5529C>G
1 paper
NM_000257.4
p.S1836W
c.5507C>G
2 papers
NM_000257.4
p.S1843R
c.5529C>A
1 paper
NM_000257.4
p.E1835insFs
c.5504_5505dupAG
2 papers
NM_000257.4
p.S1836A
c.5506T>G
3 papers
NM_000257.4
p.E1844K
c.5530G>A
38 papers
NM_000257.4
p.R1845W
c.5533C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."