Varaico: Literature-Extracted Genetic Variants

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

3 papers

NM_006901.4

p.R513*

c.1537C>T

Surrounding Variants

1 paper

NM_006901.4

p.V511G

c.1532T>G

1 paper

NM_006901.4

p.S501P

c.1501T>C

1 paper

NM_006901.4

p.E525V

c.1574A>T

1 paper

NM_006901.4

p.H526D

c.1576C>G

1 paper

NM_006901.4

p.F552F

c.1656C>T

1 paper

NM_006901.4

p.A557T

c.1669G>A

1 paper

NM_006901.4

p.H563Y

c.1687C>T

1 paper

NM_006901.4

p.E464K

c.1390G>A

1 paper

NM_006901.4

p.E463delFs

c.1387delC

1 paper

NM_006901.4

p.E460_V461Splc

c.1381-4A>G