Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.D1341N

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
7 papers
NM_000257.4
p.D1341N
c.4021G>A
Surrounding Variants
1 paper
NM_000257.4
p.C1340Y
c.4019G>A
1 paper
NM_000257.4
p.D1339G
c.4016A>G
1 paper
NM_000257.4
p.H1338P
c.4013A>C
8 papers
NM_000257.4
p.R1344W
c.4030C>T
1 paper
NM_000257.4
p.R1344L
c.4031G>T
12 papers
NM_000257.4
p.R1344Q
c.4031G>A
5 papers
NM_000257.4
p.R1337Q
c.4010G>A
1 paper
NM_000257.4
p.R1337W
c.4009C>T
1 paper
NM_000257.4
p.Q1346*
c.4036C>T
2 papers
NM_000257.4
p.Q1346E
c.4036C>G
1 paper
NM_000257.4
p.S1335S
c.4005G>A
11 papers
NM_000257.4
p.S1335L
c.4004C>T
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