Varaico: Literature-Extracted Genetic Variants

Gene:CMYA5
Variant:p.S417*

CMYA5

222 papers

Pfam Domains

SPRYaa 3944–4061UCSCSPRY domain

Gene Aliases

HGNC Name

cardiomyopathy associated 5

HGNC Previous Symbol

C5orf10

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_153610.5
p.S417*
c.1250C>G
Surrounding Variants
1 paper
NM_153610.5
p.S417*
c.1250C>A
1 paper
NM_153610.5
p.E399Q
c.1195G>C
1 paper
NM_153610.5
p.E396G
c.1187A>G
1 paper
NM_153610.5
p.A438A
c.1314A>T
1 paper
NM_153610.5
p.D384N
c.1150G>A
1 paper
NM_153610.5
p.P458S
c.1372C>T
1 paper
NM_153610.5
p.S362fs
c.1084_1085fs
1 paper
NM_153610.5
p.Q361fs
c.1081_1082fs
2 papers
NM_153610.5
p.Q361_S362delFs
c.1081_1084del4
6 papers
NM_153610.5
p.G349D
c.1046G>A
2 papers
NM_153610.5
p.S348G
c.1042A>G
2 papers
NM_153610.5
p.A337P
c.1009G>C
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