Varaico: Literature-Extracted Genetic Variants

Gene:CCDC171
Variant:p.K1089_S1090Splc

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.K1089_S1090Splc
c.3267+1G>A
Surrounding Variants
5 papers
NM_173550.4
p.K1069R
c.3206A>G
1 paper
NM_173550.4
p.Q1064L
c.3191A>T
1 paper
NM_173550.4
p.L1047_R1048insFs
c.3141_3142insC
1 paper
NM_173550.4
p.Q1026*
c.3076C>T
1 paper
NM_173550.4
p.R994C
c.2980C>T
1 paper
NM_173550.4
p.R990P
c.2969G>C
1 paper
NM_173550.4
p.R990C
c.2968C>T
1 paper
NM_173550.4
p.E989D
c.2967G>C
1 paper
NM_173550.4
p.E989D
c.2967G>T
1 paper
NM_173550.4
p.S908C
c.2723C>G
1 paper
NM_173550.4
p.A905G
c.2714C>G
1 paper
NM_173550.4
p.G898R
c.2692G>A
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