Varaico: Literature-Extracted Genetic Variants

Gene:CCIN
Variant:p.Y162D

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.Y162D
c.484T>G
Surrounding Variants
1 paper
NM_005893.3
p.G168S
c.502G>A
1 paper
NM_005893.3
p.F143_L145del3
c.427_434del9
1 paper
NM_005893.3
p.N132S
c.395A>G
1 paper
NM_005893.3
p.Q196*
c.586C>T
1 paper
NM_005893.3
p.S127C
c.380C>G
1 paper
NM_005893.3
p.A197T
c.589G>A
1 paper
NM_005893.3
p.K126_S127delFs
c.378_379delGT
1 paper
NM_005893.3
p.L201_I202insFs
c.603_604insG
1 paper
NM_005893.3
p.Y206delFs
c.616delT
1 paper
NM_005893.3
p.R117*
c.349C>T
1 paper
NM_005893.3
p.R208W
c.622C>T
1 paper
NM_005893.3
p.E210K
c.628G>A
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