Varaico: Literature-Extracted Genetic Variants

Gene:MYO5C

MYO5C

98 papers

Pfam Domains

Myosin_headaa 69–741UCSCMyosin head (motor domain)
IQaa 757–777UCSCIQ calmodulin-binding motif
IQaa 808–828UCSCIQ calmodulin-binding motif
IQaa 831–851UCSCIQ calmodulin-binding motif
IQaa 856–876UCSCIQ calmodulin-binding motif
DILaa 1574–1677UCSCDIL domain

Gene Aliases

HGNC Name

myosin VC

HGNC Alias Symbol

MGC74969

Papers
RefSeq ID
Protein change
DNA change
1–12 of 115 variants
3 papers
NM_018728.4
p.S545Y
c.1634C>A
2 papers
NM_018728.4
p.T643M
c.1928C>T
2 papers
NM_018728.4
p.R1405H
c.4214G>A
1 paper
NM_018728.4
p.W22*
c.65G>A
1 paper
NM_018728.4
p.W22*
c.66G>A
1 paper
NM_018728.4
p.R32insFs
c.94_95ins4
1 paper
NM_018728.4
p.E47Q
c.139G>C
1 paper
NM_018728.4
p.G68C
c.202G>T
1 paper
NM_018728.4
p.G68S
c.202G>A
1 paper
NM_018728.4
p.L75V
c.223C>G
1 paper
NM_018728.4
p.H79H
c.237C>T
1 paper
NM_018728.4
p.P81L
c.242C>T
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