Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD6
Variant:p.F96V

KBTBD6

42 papers

Pfam Domains

BTBaa 53–168UCSCBTB/POZ domain
BACKaa 173–278UCSCBTB And C-terminal Kelch
Kelch_1aa 424–471UCSCKelch motif
KBTB_W-LIRaa 663–674UCSCKBTB, W-type LIR motif

Gene Aliases

HGNC Name

kelch repeat and BTB domain containing 6

HGNC Alias Symbol

DKFZp547E1912

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152903.5
p.F96V
c.286T>G
Surrounding Variants
1 paper
NM_152903.5
p.Y95C
c.284A>G
1 paper
NM_152903.5
p.M114I
c.342G>A
1 paper
NM_152903.5
p.E123D
c.369G>T
1 paper
NM_152903.5
p.E123D
c.369G>C
1 paper
NM_152903.5
p.E68Q
c.202G>C
1 paper
NM_152903.5
p.D127H
c.379G>C
1 paper
NM_152903.5
p.E142Q
c.424G>C
1 paper
NM_152903.5
p.R143H
c.428G>A
1 paper
NM_152903.5
p.L40F
c.120A>T
2 papers
NM_152903.5
p.V156V
c.468G>A
1 paper
NM_152903.5
p.P28L
c.83C>T
1 paper
NM_152903.5
p.R167H
c.500G>A
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