Varaico: Literature-Extracted Genetic Variants

Gene:MYO9B
Variant:p.E332*

MYO9B

167 papers

RefSeq Summary

This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional no...

Pfam Domains

RAaa 15–114UCSCRas association (RalGDS/AF-6) domain
Myosin_headaa 148–716UCSCMyosin head (motor domain)
Myosin_headaa 781–941UCSCMyosin head (motor domain)
IQaa 957–977UCSCIQ calmodulin-binding motif
IQaa 980–1000UCSCIQ calmodulin-binding motif
IQaa 1002–1022UCSCIQ calmodulin-binding motif

Gene Aliases

HGNC Name

myosin IXB

HGNC Previous Symbol

CELIAC4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004145.4
p.E332*
c.994G>T
Surrounding Variants
1 paper
NM_004145.4
p.K322N
c.966G>C
1 paper
NM_004145.4
p.K322N
c.966G>T
1 paper
NM_004145.4
p.E321V
c.962A>T
1 paper
NM_004145.4
p.L320L
c.960T>C
1 paper
NM_004145.4
p.R350L
c.1049G>T
2 papers
NM_004145.4
p.L355F
c.1063C>T
1 paper
NM_004145.4
p.E382Q
c.1144G>C
1 paper
NM_004145.4
p.L384V
c.1150C>G
1 paper
NM_004145.4
p.A387T
c.1159G>A
1 paper
NM_004145.4
p.M390I
c.1170G>A
1 paper
NM_004145.4
p.M390I
c.1170G>C
1 paper
NM_004145.4
p.M390I
c.1170G>T
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