Varaico: Literature-Extracted Genetic Variants

Gene:CCIN
Variant:p.R212W

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
1 paper
NM_005893.3
p.R212W
c.634C>T
Surrounding Variants
1 paper
NM_005893.3
p.E210K
c.628G>A
1 paper
NM_005893.3
p.R208W
c.622C>T
1 paper
NM_005893.3
p.Y206delFs
c.616delT
1 paper
NM_005893.3
p.L201_I202insFs
c.603_604insG
1 paper
NM_005893.3
p.A197T
c.589G>A
1 paper
NM_005893.3
p.A227insFs
c.680dupC
1 paper
NM_005893.3
p.Q196*
c.586C>T
1 paper
NM_005893.3
p.K239insFs
c.715dupA
1 paper
NM_005893.3
p.G168S
c.502G>A
1 paper
NM_005893.3
p.V256V
c.768C>A
1 paper
NM_005893.3
p.D259N
c.775G>A
1 paper
NM_005893.3
p.Y162D
c.484T>G
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