Varaico: Literature-Extracted Genetic Variants

Gene:CCDC78
Variant:p.E349D

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.E349D
c.1047G>C
Surrounding Variants
1 paper
NM_001378030.1
p.E349D
c.1047G>T
1 paper
NM_001378030.1
p.Q351R
c.1052A>G
2 papers
NM_001378030.1
p.H347H
c.1041T>C
1 paper
NM_001378030.1
p.P338S
c.1012C>T
1 paper
NM_001378030.1
p.N322K
c.966C>G
1 paper
NM_001378030.1
p.N322K
c.966C>A
1 paper
NM_001378030.1
p.G353C
c.1057G>T
1 paper
NM_001378030.1
p.P362fs
c.1084_1085fs
1 paper
NM_001378030.1
p.K364fs
c.1090_1091fs
1 paper
NM_001378030.1
p.P362_K363insFs
c.1086_1087insA
1 paper
NM_001378030.1
p.K364delFs
c.1091delT
1 paper
NM_001378030.1
p.V315I
c.943G>A
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