Varaico: Literature-Extracted Genetic Variants

Gene:MYO9B
Variant:p.E1647D

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.E1647D
c.4941G>C
Surrounding Variants
1 paper
NM_004145.4
p.E1647D
c.4941G>T
1 paper
NM_004145.4
p.E1647K
c.4939G>A
1 paper
NM_004145.4
p.C1646*
c.4938C>A
1 paper
NM_004145.4
p.A1659S
c.4975G>T
1 paper
NM_004145.4
p.G1632R
c.4894G>A
1 paper
NM_004145.4
p.G1632R
c.4894G>C
2 papers
NM_004145.4
p.A1626_V1627Splc
c.4879-123G>A
1 paper
NM_004145.4
p.R1621W
c.4861C>T
1 paper
NM_004145.4
p.N1606D
c.4816A>G
1 paper
NM_004145.4
p.R1580C
c.4738C>T
1 paper
NM_004145.4
p.V1560M
c.4678G>A
2 papers
NM_004145.4
p.I1522V
c.4564A>G
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