Varaico: Literature-Extracted Genetic Variants

Gene:MYO9A
Variant:p.S383F

MYO9A

147 papers

RefSeq Summary

This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). Unconventional myosin...

Pfam Domains

RAaa 14–112UCSCRas association (RalGDS/AF-6) domain
Myosin_headaa 148–698UCSCMyosin head (motor domain)
Myosin_headaa 819–1004UCSCMyosin head (motor domain)
IQaa 1043–1063UCSCIQ calmodulin-binding motif
IQaa 1075–1095UCSCIQ calmodulin-binding motif
IQaa 1116–1136UCSCIQ calmodulin-binding motif

Gene Aliases

HGNC Name

myosin IXA

HGNC Alias Symbols

FLJ11061; FLJ13244; MGC71859

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006901.4
p.S383F
c.1148C>T
Surrounding Variants
1 paper
NM_006901.4
p.S383C
c.1148C>G
1 paper
NM_006901.4
p.N334D
c.1000A>G
1 paper
NM_006901.4
p.T389M
c.1166C>T
1 paper
NM_006901.4
p.E391delFs
c.1171delC
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