Varaico: Literature-Extracted Genetic Variants

Gene:CCDC82
Variant:p.E245E

CCDC82

46 papers

Pfam Domains

DUF4196aa 102–151UCSCDomain of unknown function (DUF4196)
DUF4196aa 146–236UCSCDomain of unknown function (DUF4196)
DUF4211aa 297–449UCSCDomain of unknown function (DUF4211)

Gene Aliases

HGNC Name

coiled-coil domain containing 82

HGNC Alias Symbol

FLJ23518

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024725.4
p.E245E
c.735A>G
Surrounding Variants
1 paper
NM_024725.4
p.R237Q
c.710G>A
1 paper
NM_024725.4
p.R237*
c.709C>T
1 paper
NM_024725.4
p.E262_D263Splc
c.786+8A>T
1 paper
NM_024725.4
p.R211H
c.632G>A
1 paper
NM_024725.4
p.R211C
c.631C>T
5 papers
NM_024725.4
p.R179*
c.535C>T
1 paper
NM_024725.4
p.Q149E
c.445C>G
1 paper
NM_024725.4
p.I144V
c.430A>G
1 paper
NM_024725.4
p.Q132E
c.394C>G
1 paper
NM_024725.4
p.S131N
c.392G>A
1 paper
NM_024725.4
p.K128R
c.383A>G
3 papers
NM_024725.4
p.D125delFs
c.373delC
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