Varaico: Literature-Extracted Genetic Variants

Gene:MYO5C
Variant:p.S270L

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
Selected Variant
1 paper
NM_018728.4
p.S270L
c.809C>T
Surrounding Variants
1 paper
NM_018728.4
p.I232fs
c.694_695fs
1 paper
NM_018728.4
p.T210I
c.629C>T
1 paper
NM_018728.4
p.T209A
c.625A>G
1 paper
NM_018728.4
p.A203T
c.607G>A
1 paper
NM_018728.4
p.G185A
c.554G>C
1 paper
NM_018728.4
p.S184L
c.551C>T
1 paper
NM_018728.4
p.R172C
c.514C>T
1 paper
NM_018728.4
p.S170L
c.509C>T
1 paper
NM_018728.4
p.N152I
c.455A>T
1 paper
NM_018728.4
p.E143K
c.427G>A
1 paper
NM_018728.4
p.M108K
c.323T>A
1 paper
NM_018728.4
p.A340T
c.1018G>A
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