Varaico: Literature-Extracted Genetic Variants

Gene:CMYA5
Variant:p.F594L

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
2 papers
NM_153610.5
p.F594L
c.1782T>G
Surrounding Variants
2 papers
NM_153610.5
p.F594L
c.1782T>A
2 papers
NM_153610.5
p.F594L
c.1780T>C
6 papers
NM_153610.5
p.G591D
c.1772G>A
2 papers
NM_153610.5
p.E584A
c.1751A>C
1 paper
NM_153610.5
p.P615T
c.1843C>A
1 paper
NM_153610.5
p.E554_P565del0
c.1662_1694del33
1 paper
NM_153610.5
p.N635delFs
c.1904_1905delAT
1 paper
NM_153610.5
p.E554_P565del12
c.1660_1694del36
5 papers
NM_153610.5
p.S651R
c.1951A>C
4 papers
NM_153610.5
p.S651R
c.1953C>A
4 papers
NM_153610.5
p.S651R
c.1953C>G
1 paper
NM_153610.5
p.L653F
c.1957C>T
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