Varaico: Literature-Extracted Genetic Variants

Gene:CMYA5
Variant:p.Q175H

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.Q175H
c.525G>C
Surrounding Variants
1 paper
NM_153610.5
p.Q175H
c.525G>T
1 paper
NM_153610.5
p.P169S
c.505C>T
1 paper
NM_153610.5
p.Y185_Y189del0
c.554_565del12
2 papers
NM_153610.5
p.K166R
c.497A>G
3 papers
NM_153610.5
p.D190G
c.569A>G
1 paper
NM_153610.5
p.R193T
c.578G>C
1 paper
NM_153610.5
p.G149A
c.446G>C
1 paper
NM_153610.5
p.T205A
c.613A>G
1 paper
NM_153610.5
p.R146H
c.437G>A
1 paper
NM_153610.5
p.R146C
c.436C>T
1 paper
NM_153610.5
p.S144L
c.431C>T
1 paper
NM_153610.5
p.T224_Y227del4
c.670_680del12
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