Varaico: Literature-Extracted Genetic Variants

Gene:CCIN
Variant:p.H42L

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.H42L
c.125A>T
Surrounding Variants
1 paper
NM_005893.3
p.R43C
c.127C>T
1 paper
NM_005893.3
p.A41delFs
c.123delA
1 paper
NM_005893.3
p.A48_V49del1
c.143_145delCTG
1 paper
NM_005893.3
p.L52M
c.154C>A
1 paper
NM_005893.3
p.R24R
c.72C>A
2 papers
NM_005893.3
p.R24C
c.70C>T
1 paper
NM_005893.3
p.D61N
c.181G>A
1 paper
NM_005893.3
p.N19D
c.55A>G
2 papers
NM_005893.3
p.S75N
c.224G>A
2 papers
NM_005893.3
p.L77P
c.230T>C
1 paper
NM_005893.3
p.E7fs
c.19_20fs
1 paper
NM_005893.3
p.T6_E7insFs
c.18_19insA
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