Varaico: Literature-Extracted Genetic Variants

Gene:CCDC171
Variant:p.L1175R

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
3 papers
NM_173550.4
p.L1175R
c.3524T>G
Surrounding Variants
1 paper
NM_173550.4
p.L1177P
c.3530T>C
1 paper
NM_173550.4
p.P1178S
c.3532C>T
1 paper
NM_173550.4
p.E1183D
c.3549G>C
1 paper
NM_173550.4
p.E1183D
c.3549G>T
1 paper
NM_173550.4
p.F1185V
c.3553T>G
1 paper
NM_173550.4
p.S1164*
c.3491C>A
1 paper
NM_173550.4
p.S1164*
c.3491C>G
1 paper
NM_173550.4
p.M1187I
c.3561G>T
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