Varaico: Literature-Extracted Genetic Variants

Gene:MYO1B
Variant:p.T503M

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.T503M
c.1508C>T
Surrounding Variants
1 paper
NM_001130158.3
p.N501S
c.1502A>G
1 paper
NM_001130158.3
p.Q513R
c.1538A>G
1 paper
NM_001130158.3
p.M493L
c.1477A>C
1 paper
NM_001130158.3
p.M493L
c.1477A>T
1 paper
NM_001130158.3
p.Y515N
c.1543T>A
1 paper
NM_001130158.3
p.E490E
c.1470G>A
1 paper
NM_001130158.3
p.H488Y
c.1462C>T
1 paper
NM_001130158.3
p.H486R
c.1457A>G
1 paper
NM_001130158.3
p.P467L
c.1400C>T
1 paper
NM_001130158.3
p.G455E
c.1364G>A
3 papers
NM_001130158.3
p.N454D
c.1360A>G
1 paper
NM_001130158.3
p.L534V
c.1600C>G
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