Varaico: Literature-Extracted Genetic Variants

Gene:CCIN
Variant:p.N112delFs

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.N112delFs
c.335_336delAC
Surrounding Variants
1 paper
NM_005893.3
p.R117*
c.349C>T
1 paper
NM_005893.3
p.V101insFs
c.302dupT
1 paper
NM_005893.3
p.K126_S127delFs
c.378_379delGT
1 paper
NM_005893.3
p.S127C
c.380C>G
1 paper
NM_005893.3
p.N132S
c.395A>G
1 paper
NM_005893.3
p.F143_L145del3
c.427_434del9
2 papers
NM_005893.3
p.L77P
c.230T>C
2 papers
NM_005893.3
p.S75N
c.224G>A
1 paper
NM_005893.3
p.Y162D
c.484T>G
1 paper
NM_005893.3
p.D61N
c.181G>A
1 paper
NM_005893.3
p.G168S
c.502G>A
1 paper
NM_005893.3
p.L52M
c.154C>A
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