Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.F85L

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.F85L
c.255C>A
Surrounding Variants
1 paper
NM_018095.6
p.F85L
c.255C>G
1 paper
NM_018095.6
p.F85L
c.253T>C
1 paper
NM_018095.6
p.C84Y
c.251G>A
1 paper
NM_018095.6
p.C84R
c.250T>C
1 paper
NM_018095.6
p.R87Q
c.260G>A
1 paper
NM_018095.6
p.S88P
c.262T>C
1 paper
NM_018095.6
p.S83N
c.248G>A
1 paper
NM_018095.6
p.M89V
c.265A>G
1 paper
NM_018095.6
p.Q82R
c.245A>G
1 paper
NM_018095.6
p.M89T
c.266T>C
1 paper
NM_018095.6
p.Q82*
c.244C>T
1 paper
NM_018095.6
p.M89I
c.267G>T
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