Varaico: Literature-Extracted Genetic Variants

Gene:MYO9A
Variant:p.N250K

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.N250K
c.750C>A
Surrounding Variants
1 paper
NM_006901.4
p.N250K
c.750C>G
1 paper
NM_006901.4
p.S260T
c.779G>C
1 paper
NM_006901.4
p.G239R
c.715G>C
1 paper
NM_006901.4
p.G239R
c.715G>A
1 paper
NM_006901.4
p.V236M
c.706G>A
1 paper
NM_006901.4
p.L227F
c.679C>T
3 papers
NM_006901.4
p.Y203C
c.608A>G
1 paper
NM_006901.4
p.K190K
c.570G>A
1 paper
NM_006901.4
p.V185A
c.554T>C
1 paper
NM_006901.4
p.N168H
c.502A>C
1 paper
NM_006901.4
p.D156G
c.467A>G
1 paper
NM_006901.4
p.C152*
c.456T>A
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