Varaico: Literature-Extracted Genetic Variants

Gene:CCDC59
Variant:p.Q53H

CCDC59

18 papers

Pfam Domains

rRNA_processingaa 49–240UCSCrRNA processing

Gene Aliases

HGNC Name

coiled-coil domain containing 59

HGNC Alias Symbols

HSPC128; TAP26; BR22

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014167.5
p.Q53H
c.159A>C
Surrounding Variants
1 paper
NM_014167.5
p.Q53H
c.159A>T
1 paper
NM_014167.5
p.R59K
c.176G>A
1 paper
NM_014167.5
p.Y97H
c.289T>C
1 paper
NM_014167.5
p.L115V
c.343T>G
1 paper
NM_014167.5
p.D142A
c.425A>C
1 paper
NM_014167.5
p.Q34H
c.102G>T
1 paper
NM_014167.5
p.Q34H
c.102G>C
1 paper
NM_014167.5
p.E20K
c.58G>A
1 paper
NM_014167.5
p.K161fs
c.481_482fs
1 paper
NM_014167.5
p.K161delFs
c.483delC
1 paper
NM_014167.5
p.T167A
c.499A>G
4 papers
NM_014167.5
p.T167P
c.499A>C
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