Varaico: Literature-Extracted Genetic Variants

Gene:MYO1B
Variant:p.L534V

MYO1B

93 papers

Pfam Domains

Myosin_headaa 17–688UCSCMyosin head (motor domain)
IQaa 705–725UCSCIQ calmodulin-binding motif
IQaa 751–771UCSCIQ calmodulin-binding motif
Myosin_TH1aa 954–1135UCSCUnconventional myosin tail, actin- and lipid-binding

Gene Aliases

HGNC Name

myosin IB

HGNC Alias Symbol

myr1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001130158.3
p.L534V
c.1600C>G
Surrounding Variants
1 paper
NM_001130158.3
p.K544R
c.1631A>G
1 paper
NM_001130158.3
p.G557_N558insT
c.1669_1673ins3
1 paper
NM_001130158.3
p.P559R
c.1676C>G
1 paper
NM_001130158.3
p.A560T
c.1678G>A
1 paper
NM_001130158.3
p.I562T
c.1685T>C
1 paper
NM_001130158.3
p.G571D
c.1712G>A
1 paper
NM_001130158.3
p.A579S
c.1735G>T
1 paper
NM_001130158.3
p.Y515N
c.1543T>A
1 paper
NM_001130158.3
p.Q513R
c.1538A>G
1 paper
NM_001130158.3
p.T503M
c.1508C>T
1 paper
NM_001130158.3
p.N501S
c.1502A>G
1 paper
NM_001130158.3
p.M493L
c.1477A>C
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