Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD6

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
1–12 of 44 variants
5 papers
NM_152903.5
p.C359Y
c.1076G>A
2 papers
NM_152903.5
p.R21G
c.61C>G
2 papers
NM_152903.5
p.V156V
c.468G>A
1 paper
NM_152903.5
p.M1K
c.2T>A
1 paper
NM_152903.5
p.Q2L
c.5A>T
1 paper
NM_152903.5
p.R17P
c.50G>C
1 paper
NM_152903.5
p.K20N
c.60G>T
1 paper
NM_152903.5
p.K20N
c.60G>C
1 paper
NM_152903.5
p.R21Q
c.62G>A
1 paper
NM_152903.5
p.P28L
c.83C>T
1 paper
NM_152903.5
p.L40F
c.120A>T
1 paper
NM_152903.5
p.E68Q
c.202G>C
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