Varaico: Literature-Extracted Genetic Variants

Gene:MYO1H

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
1–12 of 27 variants
3 papers
NM_001101421.4
p.L350*
c.1049T>A
2 papers
NM_001101421.4
p.I991_V992del1
c.2972_2974delTTG
1 paper
NM_001101421.4
p.V33insFs
c.98_99ins8
1 paper
NM_001101421.4
p.T39_S40del1
c.116_118delCCA
1 paper
NM_001101421.4
p.K50*
c.148A>T
1 paper
NM_001101421.4
p.V88I
c.262G>A
1 paper
NM_001101421.4
p.L112_N113delFs
c.336_337delAA
1 paper
NM_001101421.4
p.F116_L118del3
c.346_353del9
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.R216W
c.646C>T
1 paper
NM_001101421.4
p.R216Q
c.647G>A
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