Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.G1057S

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
14 papers
NM_000257.4
p.G1057S
c.3169G>A
Surrounding Variants
2 papers
NM_000257.4
p.E1056D
c.3168G>T
2 papers
NM_000257.4
p.E1056D
c.3168G>C
8 papers
NM_000257.4
p.G1057D
c.3170G>A
1 paper
NM_000257.4
p.D1058N
c.3172G>A
2 papers
NM_000257.4
p.L1055M
c.3163C>A
1 paper
NM_000257.4
p.K1054N
c.3162G>T
1 paper
NM_000257.4
p.K1054N
c.3162G>C
2 papers
NM_000257.4
p.K1060M
c.3179A>T
29 papers
NM_000257.4
p.R1053Q
c.3158G>A
1 paper
NM_000257.4
p.L1061L
c.3181C>T
1 paper
NM_000257.4
p.R1053W
c.3157C>T
1 paper
NM_000257.4
p.K1052E
c.3154A>G
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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."