Varaico: Literature-Extracted Genetic Variants

Gene:CCIN
Variant:p.G285S

CCIN

45 papers

RefSeq Summary

The protein encoded by this gene is a basic protein of the sperm head cytoskeleton. This protein contains kelch repeats and a BTB/POZ domain and is necessary for normal morphology during sperm differe...

Pfam Domains

BTBaa 18–128UCSCBTB/POZ domain
BACKaa 133–237UCSCBTB And C-terminal Kelch
Kelch_1aa 316–362UCSCKelch motif
Kelch_1aa 364–410UCSCKelch motif

Gene Aliases

HGNC Name

calicin

HGNC Alias Symbols

KBTBD14; BTBD20

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_005893.3
p.G285S
c.853G>A
Surrounding Variants
1 paper
NM_005893.3
p.G291S
c.871G>A
1 paper
NM_005893.3
p.G275W
c.823G>T
1 paper
NM_005893.3
p.D259N
c.775G>A
1 paper
NM_005893.3
p.V256V
c.768C>A
2 papers
NM_005893.3
p.R316W
c.946C>T
1 paper
NM_005893.3
p.K239insFs
c.715dupA
1 paper
NM_005893.3
p.G334V
c.1001G>T
1 paper
NM_005893.3
p.T335_T336del2
c.1003_1007del6
1 paper
NM_005893.3
p.S340A
c.1018T>G
1 paper
NM_005893.3
p.A227insFs
c.680dupC
1 paper
NM_005893.3
p.Y348F
c.1043A>T
1 paper
NM_005893.3
p.S354Y
c.1061C>A
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