Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.M27I

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.M27I
c.81G>C
Surrounding Variants
1 paper
NM_018095.6
p.M27I
c.81G>T
1 paper
NM_018095.6
p.M27I
c.81G>A
1 paper
NM_018095.6
p.D28N
c.82G>A
1 paper
NM_018095.6
p.D28G
c.83A>G
1 paper
NM_018095.6
p.M27V
c.79A>G
1 paper
NM_018095.6
p.E29K
c.85G>A
1 paper
NM_018095.6
p.S26P
c.76T>C
1 paper
NM_018095.6
p.A25T
c.73G>A
1 paper
NM_018095.6
p.Y31H
c.91T>C
1 paper
NM_018095.6
p.P23S
c.67C>T
1 paper
NM_018095.6
p.E22G
c.65A>G
1 paper
NM_018095.6
p.E22K
c.64G>A
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