Varaico: Literature-Extracted Genetic Variants

Gene:CCDC186
Variant:p.S256*

CCDC186

63 papers

Pfam Domains

CCDC186_helicalaa 815–841UCSCCCDC186 short helical domain

Gene Aliases

HGNC Name

coiled-coil domain containing 186

HGNC Previous Symbol

C10orf118

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_018017.4
p.S256*
c.767C>G
Surrounding Variants
4 papers
NM_018017.4
p.S256*
c.767C>A
2 papers
NM_018017.4
p.R257S
c.771A>T
1 paper
NM_018017.4
p.Q253_L254Splc
c.760-1G>T
1 paper
NM_018017.4
p.E260E
c.780A>G
1 paper
NM_018017.4
p.L261F
c.781C>T
3 papers
NM_018017.4
p.Q271K
c.811C>A
1 paper
NM_018017.4
p.Q284*
c.850C>T
1 paper
NM_018017.4
p.L286delFs
c.857delA
1 paper
NM_018017.4
p.M290L
c.868A>T
1 paper
NM_018017.4
p.M290L
c.868A>C
1 paper
NM_018017.4
p.R293_M294Fs
c.879_880delinsAFs
1 paper
NM_018017.4
p.C301fs
c.901_902fs
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