Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD6
Variant:p.R443insFs

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.R443insFs
c.1328dupG
Surrounding Variants
1 paper
NM_152903.5
p.G442fs
c.1324_1325fs
1 paper
NM_152903.5
p.N434H
c.1300A>C
1 paper
NM_152903.5
p.A399D
c.1196C>A
1 paper
NM_152903.5
p.K492T
c.1475A>C
1 paper
NM_152903.5
p.R493C
c.1477C>T
1 paper
NM_152903.5
p.C507Y
c.1520G>A
1 paper
NM_152903.5
p.A518A
c.1554C>A
1 paper
NM_152903.5
p.P361P
c.1083A>T
1 paper
NM_152903.5
p.D360D
c.1080T>C
5 papers
NM_152903.5
p.C359Y
c.1076G>A
1 paper
NM_152903.5
p.I562M
c.1686C>G
1 paper
NM_152903.5
p.R574H
c.1721G>A
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