Varaico: Literature-Extracted Genetic Variants

Gene:CMYA5
Variant:p.G1750R

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.G1750R
c.5248G>C
Surrounding Variants
1 paper
NM_153610.5
p.G1750R
c.5248G>A
1 paper
NM_153610.5
p.G1736S
c.5206G>A
1 paper
NM_153610.5
p.E1734K
c.5200G>A
2 papers
NM_153610.5
p.S1725L
c.5174C>T
1 paper
NM_153610.5
p.T1775A
c.5323A>G
7 papers
NM_153610.5
p.I1721V
c.5161A>G
5 papers
NM_153610.5
p.I1713N
c.5138T>A
1 paper
NM_153610.5
p.L1790V
c.5368C>G
1 paper
NM_153610.5
p.S1791N
c.5372G>A
1 paper
NM_153610.5
p.T1794I
c.5381C>T
1 paper
NM_153610.5
p.G1795D
c.5384G>A
1 paper
NM_153610.5
p.P1797Q
c.5390C>A
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