Varaico: Literature-Extracted Genetic Variants

Gene:CCDC171
Variant:p.S749P

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.S749P
c.2245T>C
Surrounding Variants
1 paper
NM_173550.4
p.A747D
c.2240C>A
1 paper
NM_173550.4
p.R744Q
c.2231G>A
1 paper
NM_173550.4
p.V759I
c.2275G>A
1 paper
NM_173550.4
p.G736D
c.2207G>A
1 paper
NM_173550.4
p.A735V
c.2204C>T
1 paper
NM_173550.4
p.Q774E
c.2320C>G
1 paper
NM_173550.4
p.K714insFs
c.2140dupA
1 paper
NM_173550.4
p.F713fs
c.2137_2138fs
1 paper
NM_173550.4
p.E704fs
c.2110_2111fs
1 paper
NM_173550.4
p.E704delFs
c.2110delG
1 paper
NM_173550.4
p.R799H
c.2396G>A
1 paper
NM_173550.4
p.G804G
c.2412T>C
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