Varaico: Literature-Extracted Genetic Variants

Gene:CCDC78

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
1–12 of 65 variants
5 papers
NM_001378030.1
p.W252R
c.754T>C
5 papers
NM_001378030.1
p.W252R
c.754T>A
2 papers
NM_001378030.1
p.R103Q
c.308G>A
2 papers
NM_001378030.1
p.A201T
c.601G>A
2 papers
NM_001378030.1
p.H347H
c.1041T>C
1 paper
NM_001378030.1
p.M1V
c.1A>G
1 paper
NM_001378030.1
p.R16Q
c.47G>A
1 paper
NM_001378030.1
p.S15_R17insFs
c.43_49dup7
1 paper
NM_001378030.1
p.S62S
c.186C>T
1 paper
NM_001378030.1
p.D67G
c.200A>G
1 paper
NM_001378030.1
p.A81G
c.242C>G
1 paper
NM_001378030.1
p.L86Q
c.257T>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."