Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.E12G

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.E12G
c.35A>G
Surrounding Variants
1 paper
NM_018095.6
p.E12K
c.34G>A
1 paper
NM_018095.6
p.K13E
c.37A>G
1 paper
NM_018095.6
p.R11K
c.32G>A
1 paper
NM_018095.6
p.R11G
c.31A>G
1 paper
NM_018095.6
p.Q10R
c.29A>G
1 paper
NM_018095.6
p.Q10*
c.28C>T
1 paper
NM_018095.6
p.A15T
c.43G>A
1 paper
NM_018095.6
p.W9*
c.27G>A
1 paper
NM_018095.6
p.W9*
c.26G>A
1 paper
NM_018095.6
p.A15V
c.44C>T
1 paper
NM_018095.6
p.S16G
c.46A>G
1 paper
NM_018095.6
p.S16I
c.47G>T
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