Varaico: Literature-Extracted Genetic Variants

Gene:MYH10
Variant:p.L730R

MYH10

183 papers

RefSeq Summary

This gene encodes a member of the myosin superfamily. The protein represents a conventional non-muscle myosin; it should not be confused with the unconventional myosin-10 (MYO10). Myosins are actin-de...

Pfam Domains

Myosin_Naa 31–76UCSCMyosin N-terminal SH3-like domain
Myosin_headaa 87–771UCSCMyosin head (motor domain)
IQaa 787–807UCSCIQ calmodulin-binding motif
IQaa 787–807UCSCIQ calmodulin-binding motif
IQaa 797–817UCSCIQ calmodulin-binding motif
Myosin_tail_1aa 848–1928UCSCMyosin tail

Gene Aliases

HGNC Name

myosin heavy chain 10

HGNC Alias Symbol

NMMHCB

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001256012.3
p.L730R
c.2189T>G
Surrounding Variants
2 papers
NM_001256012.3
p.R731C
c.2191C>T
2 papers
NM_001256012.3
p.G734D
c.2201G>A
2 papers
NM_001256012.3
p.E737K
c.2209G>A
2 papers
NM_001256012.3
p.R740Q
c.2219G>A
2 papers
NM_001256012.3
p.F755fs
c.2263_2264fs
1 paper
NM_001256012.3
p.F755delFs
c.2264delA
1 paper
NM_001256012.3
p.T702N
c.2105C>A
1 paper
NM_001256012.3
p.R700Q
c.2099G>A
1 paper
NM_001256012.3
p.T698A
c.2092A>G
1 paper
NM_001256012.3
p.K689E
c.2065A>G
1 paper
NM_001256012.3
p.F681_R682insGCT
c.2041_2045ins9
2 papers
NM_001256012.3
p.G679D
c.2036G>A
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