Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.E775D

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.E775D
c.2325A>C
Surrounding Variants
1 paper
NM_000257.4
p.E775D
c.2325A>T
1 paper
NM_000257.4
p.M776T
c.2327T>C
2 papers
NM_000257.4
p.E775K
c.2323G>A
1 paper
NM_000257.4
p.E774V
c.2321A>T
1 paper
NM_000257.4
p.R777T
c.2330G>C
2 papers
NM_000257.4
p.R777K
c.2330G>A
1 paper
NM_000257.4
p.D778Y
c.2332G>T
3 papers
NM_000257.4
p.D778N
c.2332G>A
16 papers
NM_000257.4
p.D778V
c.2333A>T
12 papers
NM_000257.4
p.D778G
c.2333A>G
18 papers
NM_000257.4
p.D778E
c.2334C>G
17 papers
NM_000257.4
p.D778E
c.2334C>A
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."