Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.K233E

KBTBD4

37 papers

Pfam Domains

BTBaa 51–157UCSCBTB/POZ domain
BACKaa 163–250UCSCBTB And C-terminal Kelch
Kelch_2aa 290–331UCSCKelch motif

Gene Aliases

HGNC Name

kelch repeat and BTB domain containing 4

HGNC Previous Symbol

BKLHD4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018095.6
p.K233E
c.697A>G
Surrounding Variants
1 paper
NM_018095.6
p.E234G
c.701A>G
1 paper
NM_018095.6
p.E235K
c.703G>A
1 paper
NM_018095.6
p.E235G
c.704A>G
1 paper
NM_018095.6
p.N230S
c.689A>G
1 paper
NM_018095.6
p.N230D
c.688A>G
1 paper
NM_018095.6
p.R236K
c.707G>A
1 paper
NM_018095.6
p.I229T
c.686T>C
1 paper
NM_018095.6
p.I229V
c.685A>G
1 paper
NM_018095.6
p.W228*
c.684G>A
1 paper
NM_018095.6
p.W228*
c.683G>A
1 paper
NM_018095.6
p.W228R
c.682T>C
1 paper
NM_018095.6
p.W228R
c.682T>A
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