Varaico: Literature-Extracted Genetic Variants

Gene:CCDC171
Variant:p.R307Q

CCDC171

94 papers

Pfam Domains

CCDC171aa 33–202UCSCCoiled-coil domain-containing protein 171
CCDC171aa 180–1246UCSCCoiled-coil domain-containing protein 171

Gene Aliases

HGNC Name

coiled-coil domain containing 171

HGNC Previous Symbol

C9orf93

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_173550.4
p.R307Q
c.920G>A
Surrounding Variants
1 paper
NM_173550.4
p.Q305_L306Splc
c.916-7C>G
1 paper
NM_173550.4
p.R345*
c.1033C>T
1 paper
NM_173550.4
p.E346K
c.1036G>A
2 papers
NM_173550.4
p.A355G
c.1064C>G
1 paper
NM_173550.4
p.L359Splc
c.1076+1G>A
1 paper
NM_173550.4
p.E302G
c.905A>G
1 paper
NM_173550.4
p.A293A
c.879G>A
1 paper
NM_173550.4
p.V280E
c.839T>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."