Varaico: Literature-Extracted Genetic Variants

Gene:CCIN
Variant:p.R395C

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.R395C
c.1183C>T
Surrounding Variants
1 paper
NM_005893.3
p.R395R
c.1185C>G
1 paper
NM_005893.3
p.I393T
c.1178T>C
1 paper
NM_005893.3
p.R399W
c.1195C>T
1 paper
NM_005893.3
p.G407delFs
c.1220delG
1 paper
NM_005893.3
p.G407fs
c.1219_1220fs
1 paper
NM_005893.3
p.G407A
c.1220G>C
1 paper
NM_005893.3
p.G382R
c.1144G>A
1 paper
NM_005893.3
p.G382R
c.1144G>C
1 paper
NM_005893.3
p.I411T
c.1232T>C
1 paper
NM_005893.3
p.P412delFs
c.1235delC
1 paper
NM_005893.3
p.Y378_S379del2
c.1132_1136del6
1 paper
NM_005893.3
p.A417T
c.1249G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."