Varaico: Literature-Extracted Genetic Variants

Gene:CCDC78
Variant:p.R103delins

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.R103delins
c.307delinsGAGCTGC
Surrounding Variants
1 paper
NM_001378030.1
p.R103*
c.307C>T
2 papers
NM_001378030.1
p.R103Q
c.308G>A
1 paper
NM_001378030.1
p.R96Q
c.287G>A
1 paper
NM_001378030.1
p.C111Y
c.332G>A
1 paper
NM_001378030.1
p.P119L
c.356C>T
1 paper
NM_001378030.1
p.R123Q
c.368G>A
1 paper
NM_001378030.1
p.S139F
c.416C>T
1 paper
NM_001378030.1
p.P148L
c.443C>T
1 paper
NM_001378030.1
p.L86Q
c.257T>A
1 paper
NM_001378030.1
p.T151A
c.451A>G
1 paper
NM_001378030.1
p.A81G
c.242C>G
1 paper
NM_001378030.1
p.N156K
c.468T>G
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