Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.E223A

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.E223A
c.668A>C
Surrounding Variants
1 paper
NM_018095.6
p.E223G
c.668A>G
1 paper
NM_018095.6
p.E223K
c.667G>A
2 papers
NM_018095.6
p.A224T
c.670G>A
1 paper
NM_018095.6
p.T222I
c.665C>T
1 paper
NM_018095.6
p.T222A
c.664A>G
1 paper
NM_018095.6
p.I225T
c.674T>C
1 paper
NM_018095.6
p.P221L
c.662C>T
1 paper
NM_018095.6
p.E226Q
c.676G>C
1 paper
NM_018095.6
p.E226K
c.676G>A
1 paper
NM_018095.6
p.N220D
c.658A>G
1 paper
NM_018095.6
p.A227T
c.679G>A
1 paper
NM_018095.6
p.Q219R
c.656A>G
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