Varaico: Literature-Extracted Genetic Variants

Gene:CCDC93
Variant:p.L73I

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
3 papers
NM_019044.5
p.L73I
c.217C>A
Surrounding Variants
3 papers
NM_019044.5
p.L73F
c.217C>T
1 paper
NM_019044.5
p.D67G
c.200A>G
3 papers
NM_019044.5
p.M57I
c.171G>C
1 paper
NM_019044.5
p.A37_G38ins1
c.111_112insGGC
1 paper
NM_019044.5
p.E29Q
c.85G>C
1 paper
NM_019044.5
p.R18G
c.52A>G
1 paper
NM_019044.5
p.T17I
c.50C>T
1 paper
NM_019044.5
p.I84Splc
c.252-4A>G
1 paper
NM_019044.5
p.L86M
c.256C>A
3 papers
NM_019044.5
p.Q102*
c.304C>T
1 paper
NM_019044.5
p.M111V
c.331A>G
1 paper
NM_019044.5
p.I116V
c.346A>G
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