Varaico: Literature-Extracted Genetic Variants

Gene:CCDC43

CCDC43

16 papers

Pfam Domains

PWI_CCDC43aa 16–90UCSCCCDC43 PWI-like domain
CCDC43_Caa 169–224UCSCCoiled-coil domain-containing protein 43 C-terminal domain

Gene Aliases

HGNC Name

coiled-coil domain containing 43

HGNC Alias Symbol

FLJ31795

Papers
RefSeq ID
Protein change
DNA change
1–12 of 16 variants
4 papers
NM_144609.3
p.R216delFs
c.646delT
4 papers
NM_144609.3
p.R216fs
c.646_647fs
3 papers
NM_144609.3
p.R216insFs
c.646_647insA
2 papers
NM_144609.3
p.R216fs
c.646_647fs
1 paper
NM_144609.3
p.P12S
c.34C>T
1 paper
NM_144609.3
p.E97*
c.289G>T
1 paper
NM_144609.3
p.V114I
c.340G>A
1 paper
NM_144609.3
p.T168I
c.503C>T
1 paper
NM_144609.3
p.A176S
c.526G>T
1 paper
NM_144609.3
p.D186E
c.558T>G
1 paper
NM_144609.3
p.D186E
c.558T>A
1 paper
NM_144609.3
p.R201insFs
c.602_603insG
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