Varaico: Literature-Extracted Genetic Variants

Gene:CMYA5
Variant:p.F2047L

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.F2047L
c.6141C>A
Surrounding Variants
1 paper
NM_153610.5
p.F2047L
c.6141C>G
1 paper
NM_153610.5
p.F2047L
c.6139T>C
1 paper
NM_153610.5
p.I2040S
c.6119T>G
1 paper
NM_153610.5
p.E2058E
c.6174A>G
1 paper
NM_153610.5
p.E2080E
c.6240A>G
3 papers
NM_153610.5
p.S2012F
c.6035C>T
1 paper
NM_153610.5
p.H2011fs
c.6031_6032fs
1 paper
NM_153610.5
p.H2011delFs
c.6031delC
2 papers
NM_153610.5
p.E2086K
c.6256G>A
1 paper
NM_153610.5
p.I2113V
c.6337A>G
1 paper
NM_153610.5
p.S1979R
c.5937T>A
1 paper
NM_153610.5
p.S1979R
c.5937T>G
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