Varaico: Literature-Extracted Genetic Variants

Gene:CCIN
Variant:p.R432W

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.R432W
c.1294C>T
Surrounding Variants
1 paper
NM_005893.3
p.R432Q
c.1295G>A
1 paper
NM_005893.3
p.Y438C
c.1313A>G
1 paper
NM_005893.3
p.A417T
c.1249G>A
2 papers
NM_005893.3
p.C447*
c.1341C>A
1 paper
NM_005893.3
p.I411T
c.1232T>C
1 paper
NM_005893.3
p.P412delFs
c.1235delC
2 papers
NM_005893.3
p.V455M
c.1363G>A
1 paper
NM_005893.3
p.G407A
c.1220G>C
1 paper
NM_005893.3
p.G407fs
c.1219_1220fs
1 paper
NM_005893.3
p.G407delFs
c.1220delG
1 paper
NM_005893.3
p.R399W
c.1195C>T
1 paper
NM_005893.3
p.R395R
c.1185C>G
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