Varaico: Literature-Extracted Genetic Variants

Gene:CMYA5
Variant:p.R2708H

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.R2708H
c.8123G>A
Surrounding Variants
1 paper
NM_153610.5
p.R2708C
c.8122C>T
1 paper
NM_153610.5
p.Q2706H
c.8118A>C
1 paper
NM_153610.5
p.Q2706H
c.8118A>T
1 paper
NM_153610.5
p.T2720T
c.8160T>C
1 paper
NM_153610.5
p.K2721*
c.8161A>T
1 paper
NM_153610.5
p.K2721N
c.8163G>C
1 paper
NM_153610.5
p.K2721N
c.8163G>T
3 papers
NM_153610.5
p.T2693I
c.8078C>T
1 paper
NM_153610.5
p.S2682L
c.8045C>T
1 paper
NM_153610.5
p.L2745I
c.8233C>A
1 paper
NM_153610.5
p.E2748*
c.8242G>T
1 paper
NM_153610.5
p.K2765R
c.8294A>G
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