Varaico: Literature-Extracted Genetic Variants

Gene:CCDC93
Variant:p.R213H

CCDC93

62 papers

Pfam Domains

CCDC93_Naa 21–129UCSCCCDC93 protein N-terminal domain
CCDC93_CCaa 174–625UCSCCCDC93 coiled-coil domain

Gene Aliases

HGNC Name

CCC complex scaffolding subunit CCDC93

HGNC Alias Symbol

FLJ10996

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_019044.5
p.R213H
c.638G>A
Surrounding Variants
2 papers
NM_019044.5
p.R213C
c.637C>T
7 papers
NM_019044.5
p.P228L
c.683C>T
2 papers
NM_019044.5
p.K259R
c.776A>G
2 papers
NM_019044.5
p.E267_S268Splc
c.802-3C>T
3 papers
NM_019044.5
p.Q277L
c.830A>T
3 papers
NM_019044.5
p.G280V
c.839G>T
1 paper
NM_019044.5
p.I286T
c.857T>C
1 paper
NM_019044.5
p.S291S
c.873C>T
3 papers
NM_019044.5
p.L203F
c.609G>T
3 papers
NM_019044.5
p.T201I
c.602C>T
1 paper
NM_019044.5
p.A200G
c.599C>G
3 papers
NM_019044.5
p.K181T
c.542A>C
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