Varaico: Literature-Extracted Genetic Variants

Gene:CCDC43
Variant:p.R216delFs

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
Selected Variant
4 papers
NM_144609.3
p.R216delFs
c.646delT
Surrounding Variants
3 papers
NM_144609.3
p.R216insFs
c.646_647insA
4 papers
NM_144609.3
p.R216fs
c.646_647fs
2 papers
NM_144609.3
p.R216fs
c.646_647fs
1 paper
NM_144609.3
p.E213fs
c.637_638fs
1 paper
NM_144609.3
p.R209C
c.625C>T
1 paper
NM_144609.3
p.R224Q
c.671G>A
1 paper
NM_144609.3
p.R201insFs
c.602_603insG
1 paper
NM_144609.3
p.R201fs
c.601_602fs
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.A176S
c.526G>T
1 paper
NM_144609.3
p.T168I
c.503C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."