Varaico: Literature-Extracted Genetic Variants

Gene:CCDC171
Variant:p.R1228Q

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
2 papers
NM_173550.4
p.R1228Q
c.3683G>A
Surrounding Variants
1 paper
NM_173550.4
p.R1228L
c.3683G>T
1 paper
NM_173550.4
p.E1221G
c.3662A>G
1 paper
NM_173550.4
p.H1239R
c.3716A>G
1 paper
NM_173550.4
p.A1201S
c.3601G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."