Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.S284N

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.S284N
c.851G>A
Surrounding Variants
1 paper
NM_018095.6
p.S284G
c.850A>G
1 paper
NM_018095.6
p.G285insFs
c.854_855insTT
1 paper
NM_018095.6
p.S282N
c.845G>A
1 paper
NM_018095.6
p.I281T
c.842T>C
1 paper
NM_018095.6
p.S288G
c.862A>G
1 paper
NM_018095.6
p.S280F
c.839C>T
1 paper
NM_018095.6
p.S280P
c.838T>C
1 paper
NM_018095.6
p.D279G
c.836A>G
1 paper
NM_018095.6
p.D279N
c.835G>A
1 paper
NM_018095.6
p.D278G
c.833A>G
1 paper
NM_018095.6
p.D278N
c.832G>A
1 paper
NM_018095.6
p.H291Y
c.871C>T
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