Varaico: Literature-Extracted Genetic Variants

Gene:MYO1D
Variant:p.L828V

MYO1D

68 papers

Pfam Domains

Myosin_headaa 1–594UCSCMyosin head (motor domain)
Myosin_headaa 11–682UCSCMyosin head (motor domain)
IQaa 699–719UCSCIQ calmodulin-binding motif
Myosin_TH1aa 726–918UCSCUnconventional myosin tail, actin- and lipid-binding
Myosin_TH1aa 814–960UCSCUnconventional myosin tail, actin- and lipid-binding

Gene Aliases

HGNC Name

myosin ID

HGNC Alias Symbols

KIAA0727; myr4; PPP1R108

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015194.3
p.L828V
c.2482C>G
Surrounding Variants
1 paper
NM_015194.3
p.V807M
c.2419G>A
1 paper
NM_015194.3
p.S791G
c.2371A>G
1 paper
NM_015194.3
p.S830_K831Splc
c.2491-7C>T
1 paper
NM_015194.3
p.A845G
c.2534C>G
1 paper
NM_015194.3
p.K849I
c.2546A>T
2 papers
NM_015194.3
p.L858R
c.2573T>G
1 paper
NM_015194.3
p.H862L
c.2585A>T
1 paper
NM_015194.3
p.A775V
c.2324C>T
1 paper
NM_015194.3
p.E773G
c.2318A>G
1 paper
NM_015194.3
p.L769R
c.2306T>G
2 papers
NM_015194.3
p.P765S
c.2293C>T
1 paper
NM_015194.3
p.T752T
c.2256C>A
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