Varaico: Literature-Extracted Genetic Variants

Gene:CCIN
Variant:p.S340A

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.S340A
c.1018T>G
Surrounding Variants
1 paper
NM_005893.3
p.T335_T336del2
c.1003_1007del6
1 paper
NM_005893.3
p.G334V
c.1001G>T
1 paper
NM_005893.3
p.Y348F
c.1043A>T
1 paper
NM_005893.3
p.S354Y
c.1061C>A
1 paper
NM_005893.3
p.K357insFs
c.1069_1070insAC
1 paper
NM_005893.3
p.I363I
c.1089C>T
2 papers
NM_005893.3
p.R316W
c.946C>T
1 paper
NM_005893.3
p.G364R
c.1090G>A
1 paper
NM_005893.3
p.G364R
c.1090G>C
1 paper
NM_005893.3
p.Y378_S379del2
c.1132_1136del6
1 paper
NM_005893.3
p.G382R
c.1144G>A
1 paper
NM_005893.3
p.G382R
c.1144G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."