Varaico: Literature-Extracted Genetic Variants

Gene:CCDC138
Variant:p.E31_Y32Splc

CCDC138

47 papers

Pfam Domains

CCDC138_ccaa 263–321UCSCCoiled-coil-domain-containing protein 138, coiled-coil
CCDC138_Caa 361–651UCSCCoiled-coil domain-containing protein 138, C-terminal domain

Gene Aliases

HGNC Name

coiled-coil domain containing 138

HGNC Alias Symbol

FLJ32745

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_144978.3
p.E31_Y32Splc
c.94-2A>T
Surrounding Variants
1 paper
NM_144978.3
p.Y32C
c.95A>G
1 paper
NM_144978.3
p.E31_Y32Splc
c.94-113A>G
1 paper
NM_144978.3
p.S57F
c.170C>T
1 paper
NM_144978.3
p.G26G
c.78C>A
1 paper
NM_144978.3
p.E16*
c.46G>T
1 paper
NM_144978.3
p.Q11H
c.33G>C
1 paper
NM_144978.3
p.Q11H
c.33G>T
1 paper
NM_144978.3
p.P9P
c.27G>A
1 paper
NM_144978.3
p.P9Q
c.26C>A
2 papers
NM_144978.3
p.D99Y
c.295G>T
1 paper
NM_144978.3
p.Q103*
c.307C>T
3 papers
NM_144978.3
p.R115K
c.344G>A
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