Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD8
Variant:p.W220C

KBTBD8

39 papers

Pfam Domains

BTBaa 39–147UCSCBTB/POZ domain
BACKaa 152–254UCSCBTB And C-terminal Kelch
Kelch_1aa 330–377UCSCKelch motif
Kelch_1aa 379–428UCSCKelch motif
Kelch_1aa 470–516UCSCKelch motif

Gene Aliases

HGNC Name

kelch repeat and BTB domain containing 8

HGNC Alias Symbols

TA-KRP; KIAA1842

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032505.3
p.W220C
c.660G>C
Surrounding Variants
1 paper
NM_032505.3
p.W220C
c.660G>T
3 papers
NM_032505.3
p.F179L
c.537T>A
3 papers
NM_032505.3
p.F179L
c.537T>G
3 papers
NM_032505.3
p.F179L
c.535T>C
1 paper
NM_032505.3
p.R176C
c.526C>T
1 paper
NM_032505.3
p.K172*
c.514A>T
1 paper
NM_032505.3
p.G168R
c.502G>A
1 paper
NM_032505.3
p.G168R
c.502G>C
1 paper
NM_032505.3
p.H161delFs
c.481delC
1 paper
NM_032505.3
p.P149T
c.445C>A
1 paper
NM_032505.3
p.G299R
c.895G>A
1 paper
NM_032505.3
p.G299R
c.895G>C
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