Varaico: Literature-Extracted Genetic Variants

Gene:CCDC78
Variant:p.P148L

CCDC78

65 papers

Pfam Domains

DUF4472aa 54–165UCSCDomain of unknown function (DUF4472)

Gene Aliases

HGNC Name

coiled-coil domain containing 78

HGNC Previous Symbol

C16orf25

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001378030.1
p.P148L
c.443C>T
Surrounding Variants
1 paper
NM_001378030.1
p.T151A
c.451A>G
1 paper
NM_001378030.1
p.N156K
c.468T>G
1 paper
NM_001378030.1
p.N156K
c.468T>A
1 paper
NM_001378030.1
p.Q158*
c.472C>T
1 paper
NM_001378030.1
p.Q158H
c.474G>T
1 paper
NM_001378030.1
p.Q158H
c.474G>C
1 paper
NM_001378030.1
p.G162E
c.485G>A
1 paper
NM_001378030.1
p.G164S
c.490G>A
1 paper
NM_001378030.1
p.Q166L
c.497A>T
1 paper
NM_001378030.1
p.S139F
c.416C>T
1 paper
NM_001378030.1
p.A172insFs
c.515dupC
1 paper
NM_001378030.1
p.E174K
c.520G>A
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