Varaico: Literature-Extracted Genetic Variants

Gene:CCDC42
Variant:p.K48N

CCDC42

21 papers

Pfam Domains

DUF4200aa 44–162UCSCDomain of unknown function (DUF4200)

Gene Aliases

HGNC Name

coiled-coil domain containing 42

HGNC Alias Symbols

FLJ32734; CCDC42A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_144681.3
p.K48N
c.144A>T
Surrounding Variants
1 paper
NM_144681.3
p.E50Q
c.148G>C
1 paper
NM_144681.3
p.S37L
c.110C>T
1 paper
NM_144681.3
p.L74Q
c.221T>A
1 paper
NM_144681.3
p.E78K
c.232G>A
1 paper
NM_144681.3
p.R16R
c.48G>A
1 paper
NM_144681.3
p.R104W
c.310C>T
1 paper
NM_144681.3
p.R128H
c.383G>A
1 paper
NM_144681.3
p.K129R
c.386A>G
1 paper
NM_144681.3
p.E138K
c.412G>A
2 papers
NM_144681.3
p.A144T
c.430G>A
1 paper
NM_144681.3
p.E164_F165Splc
c.493-175G>C
1 paper
NM_144681.3
p.A189A
c.567G>T
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