Varaico: Literature-Extracted Genetic Variants

Gene:CCDC171
Variant:p.L152F

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.L152F
c.456G>C
Surrounding Variants
2 papers
NM_173550.4
p.L152F
c.456G>T
1 paper
NM_173550.4
p.H150N
c.448C>A
1 paper
NM_173550.4
p.D156_M158del3
c.466_473del9
1 paper
NM_173550.4
p.Q124*
c.370C>T
4 papers
NM_173550.4
p.S121T
c.361T>A
1 paper
NM_173550.4
p.M194V
c.580A>G
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