Varaico: Literature-Extracted Genetic Variants

Gene:MYO1H
Variant:p.R216Q

MYO1H

32 papers

Pfam Domains

Myosin_headaa 29–694UCSCMyosin head (motor domain)
Myosin_TH1aa 864–1037UCSCUnconventional myosin tail, actin- and lipid-binding

Gene Aliases

HGNC Name

myosin IH

HGNC Alias Symbol

FLJ37587

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001101421.4
p.R216Q
c.647G>A
Surrounding Variants
1 paper
NM_001101421.4
p.R216W
c.646C>T
1 paper
NM_001101421.4
p.L224V
c.670C>G
1 paper
NM_001101421.4
p.S200N
c.599G>A
1 paper
NM_001101421.4
p.S200I
c.599G>T
1 paper
NM_001101421.4
p.S260insFs
c.780dupT
1 paper
NM_001101421.4
p.F116_L118del3
c.346_353del9
1 paper
NM_001101421.4
p.L112_N113delFs
c.336_337delAA
1 paper
NM_001101421.4
p.H336_R337del2
c.1006_1010del6
3 papers
NM_001101421.4
p.L350*
c.1049T>A
1 paper
NM_001101421.4
p.K385insFs
c.1154_1155dupAG
1 paper
NM_001101421.4
p.V88I
c.262G>A
1 paper
NM_001101421.4
p.Q434*
c.1300C>T
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