Varaico: Literature-Extracted Genetic Variants

Gene:MYO5C
Variant:p.S1253C

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.S1253C
c.3757A>T
Surrounding Variants
1 paper
NM_018728.4
p.R1261S
c.3783A>T
1 paper
NM_018728.4
p.R1261S
c.3783A>C
1 paper
NM_018728.4
p.K1262Splc
c.3786-2A>G
1 paper
NM_018728.4
p.M1285L
c.3853A>T
1 paper
NM_018728.4
p.M1285L
c.3853A>C
1 paper
NM_018728.4
p.A1236V
c.3707C>T
1 paper
NM_018728.4
p.E1207A
c.3620A>C
1 paper
NM_018728.4
p.R1198C
c.3592C>T
1 paper
NM_018728.4
p.S1177I
c.3530G>T
1 paper
NM_018728.4
p.E1167K
c.3499G>A
1 paper
NM_018728.4
p.R1149H
c.3446G>A
1 paper
NM_018728.4
p.T1340K
c.4019C>A
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