Varaico: Literature-Extracted Genetic Variants

Gene:CCDC171
Variant:p.A1270A

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.A1270A
c.3810T>G
Surrounding Variants
1 paper
NM_173550.4
p.A1270D
c.3809C>A
2 papers
NM_173550.4
p.S1261S
c.3783C>T
1 paper
NM_173550.4
p.S1258T
c.3772T>A
1 paper
NM_173550.4
p.A1283A
c.3849T>A
1 paper
NM_173550.4
p.F1291L
c.3871T>C
1 paper
NM_173550.4
p.F1291L
c.3873C>A
1 paper
NM_173550.4
p.F1291L
c.3873C>G
1 paper
NM_173550.4
p.F1296Y
c.3887T>A
2 papers
NM_173550.4
p.S1310F
c.3929C>T
1 paper
NM_173550.4
p.N1319H
c.3955A>C
1 paper
NM_173550.4
p.G1325R
c.3973G>A
1 paper
NM_173550.4
p.G1325R
c.3973G>C
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