Varaico: Literature-Extracted Genetic Variants

Gene:MYO9A
Variant:p.R1217*

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.R1217*
c.3649C>T
Surrounding Variants
1 paper
NM_006901.4
p.E1229K
c.3685G>A
4 papers
NM_006901.4
p.G1193E
c.3578G>A
1 paper
NM_006901.4
p.Q1247R
c.3740A>G
1 paper
NM_006901.4
p.S1183C
c.3548C>G
1 paper
NM_006901.4
p.Q1264P
c.3791A>C
1 paper
NM_006901.4
p.G1268G
c.3804C>A
1 paper
NM_006901.4
p.R1269Q
c.3806G>A
1 paper
NM_006901.4
p.E1279K
c.3835G>A
1 paper
NM_006901.4
p.R1293C
c.3877C>T
1 paper
NM_006901.4
p.S1294P
c.3880T>C
1 paper
NM_006901.4
p.R1319Q
c.3956G>A
1 paper
NM_006901.4
p.D1323H
c.3967G>C
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