Varaico: Literature-Extracted Genetic Variants

Gene:MYO9A

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
1–12 of 186 variants
11 papers
NM_006901.4
p.D1698G
c.5093A>G
7 papers
NM_006901.4
p.R1517H
c.4550G>A
4 papers
NM_006901.4
p.G1193E
c.3578G>A
3 papers
NM_006901.4
p.Y203C
c.608A>G
3 papers
NM_006901.4
p.R513*
c.1537C>T
3 papers
NM_006901.4
p.N1631I
c.4892A>T
3 papers
NM_006901.4
p.G2282E
c.6845G>A
3 papers
NM_006901.4
p.R2283H
c.6848G>A
2 papers
NM_006901.4
p.R104C
c.310C>T
2 papers
NM_006901.4
p.R701*
c.2101C>T
2 papers
NM_006901.4
p.R771Q
c.2312G>A
2 papers
NM_006901.4
p.R1370W
c.4108C>T
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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."