Varaico: Literature-Extracted Genetic Variants

Gene:CMYA5
Variant:p.S2184R

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.S2184R
c.6550A>C
Surrounding Variants
1 paper
NM_153610.5
p.S2184R
c.6552C>A
1 paper
NM_153610.5
p.S2184R
c.6552C>G
1 paper
NM_153610.5
p.S2189L
c.6566C>T
1 paper
NM_153610.5
p.S2189S
c.6567G>A
1 paper
NM_153610.5
p.P2149H
c.6446C>A
1 paper
NM_153610.5
p.E2240*
c.6718G>T
1 paper
NM_153610.5
p.I2113V
c.6337A>G
6 papers
NM_153610.5
p.V2262L
c.6784G>C
2 papers
NM_153610.5
p.E2086K
c.6256G>A
1 paper
NM_153610.5
p.E2080E
c.6240A>G
1 paper
NM_153610.5
p.V2306I
c.6916G>A
1 paper
NM_153610.5
p.E2058E
c.6174A>G
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