Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.Y460C

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.Y460C
c.1379A>G
Surrounding Variants
1 paper
NM_018095.6
p.V458A
c.1373T>C
1 paper
NM_018095.6
p.V458M
c.1372G>A
1 paper
NM_018095.6
p.L457P
c.1370T>C
1 paper
NM_018095.6
p.L464P
c.1391T>C
1 paper
NM_018095.6
p.S456P
c.1366T>C
1 paper
NM_018095.6
p.D465N
c.1393G>A
1 paper
NM_018095.6
p.D465G
c.1394A>G
1 paper
NM_018095.6
p.D455N
c.1363G>A
1 paper
NM_018095.6
p.S466G
c.1396A>G
1 paper
NM_018095.6
p.S466N
c.1397G>A
1 paper
NM_018095.6
p.G454E
c.1361G>A
1 paper
NM_018095.6
p.F467S
c.1400T>C
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