Varaico: Literature-Extracted Genetic Variants

Gene:CCDC78
Variant:p.W252R

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
5 papers
NM_001378030.1
p.W252R
c.754T>C
Surrounding Variants
5 papers
NM_001378030.1
p.W252R
c.754T>A
1 paper
NM_001378030.1
p.W252*
c.755G>A
1 paper
NM_001378030.1
p.W252*
c.756G>A
1 paper
NM_001378030.1
p.K238Q
c.712A>C
1 paper
NM_001378030.1
p.N229S
c.686A>G
1 paper
NM_001378030.1
p.Q219*
c.655C>T
1 paper
NM_001378030.1
p.V255_E256Splc
c.766-9C>T
1 paper
NM_001378030.1
p.A212_V213delFs
c.635_639del5
1 paper
NM_001378030.1
p.A276P
c.826G>C
2 papers
NM_001378030.1
p.A201T
c.601G>A
1 paper
NM_001378030.1
p.R282W
c.844C>T
1 paper
NM_001378030.1
p.G196*
c.586G>T
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