Varaico: Literature-Extracted Genetic Variants

Gene:CCDC47

CCDC47

44 papers

Pfam Domains

CCDC47aa 135–467UCSCPAT complex subunit CCDC47

Gene Aliases

HGNC Name

coiled-coil domain containing 47

HGNC Alias Symbol

GK001

Papers
RefSeq ID
Protein change
DNA change
1–12 of 62 variants
3 papers
NM_020198.3
p.R271*
c.811C>T
3 papers
NM_020198.3
p.R397*
c.1189C>T
3 papers
NM_020198.3
p.R412*
c.1234C>T
2 papers
NM_020198.3
p.N188delFs
c.563delT
2 papers
NM_020198.3
p.E190K
c.568G>A
2 papers
NM_020198.3
p.K189_E190delFs
c.567_570del4
2 papers
NM_020198.3
p.L382fs
c.1144_1145fs
2 papers
NM_020198.3
p.L382delFs
c.1145delA
2 papers
NM_020198.3
p.S389fs
c.1165_1166fs
2 papers
NM_020198.3
p.S389delFs
c.1165delA
2 papers
NM_020198.3
p.R443*
c.1327C>T
1 paper
NM_020198.3
p.D24Y
c.70G>T
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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."