Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.R671C

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
26 papers
NM_000257.4
p.R671C
c.2011C>T
Surrounding Variants
1 paper
NM_000257.4
p.R671fs
c.2011_2012fs
1 paper
NM_000257.4
p.R671P
c.2012G>C
3 papers
NM_000257.4
p.R671H
c.2012G>A
1 paper
NM_000257.4
p.V670A
c.2009T>C
1 paper
NM_000257.4
p.V670L
c.2008G>T
1 paper
NM_000257.4
p.V670L
c.2008G>C
4 papers
NM_000257.4
p.C672F
c.2015G>T
1 paper
NM_000257.4
p.R671delFs
c.2013delA
1 paper
NM_000257.4
p.I673S
c.2018T>G
1 paper
NM_000257.4
p.H668Q
c.2004C>G
1 paper
NM_000257.4
p.H668Q
c.2004C>A
1 paper
NM_000257.4
p.H668D
c.2002C>G
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."