Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.A452V

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.A452V
c.1355C>T
Surrounding Variants
1 paper
NM_018095.6
p.A452T
c.1354G>A
1 paper
NM_018095.6
p.E453K
c.1357G>A
1 paper
NM_018095.6
p.E453G
c.1358A>G
1 paper
NM_018095.6
p.G454E
c.1361G>A
1 paper
NM_018095.6
p.I450V
c.1348A>G
1 paper
NM_018095.6
p.D455N
c.1363G>A
1 paper
NM_018095.6
p.S456P
c.1366T>C
1 paper
NM_018095.6
p.V448A
c.1343T>C
1 paper
NM_018095.6
p.V448M
c.1342G>A
1 paper
NM_018095.6
p.L457P
c.1370T>C
1 paper
NM_018095.6
p.L447P
c.1340T>C
1 paper
NM_018095.6
p.V458M
c.1372G>A
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