Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.S92P

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.S92P
c.274T>C
Surrounding Variants
1 paper
NM_018095.6
p.S92F
c.275C>T
1 paper
NM_018095.6
p.T91I
c.272C>T
1 paper
NM_018095.6
p.T91A
c.271A>G
1 paper
NM_018095.6
p.F90S
c.269T>C
1 paper
NM_018095.6
p.L94P
c.281T>C
1 paper
NM_018095.6
p.M89I
c.267G>T
1 paper
NM_018095.6
p.M89I
c.267G>C
1 paper
NM_018095.6
p.M89I
c.267G>A
1 paper
NM_018095.6
p.M89T
c.266T>C
1 paper
NM_018095.6
p.M89V
c.265A>G
1 paper
NM_018095.6
p.S88P
c.262T>C
1 paper
NM_018095.6
p.E96K
c.286G>A
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