Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD6
Variant:p.M301I

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.M301I
c.903G>C
Surrounding Variants
1 paper
NM_152903.5
p.M301I
c.903G>T
1 paper
NM_152903.5
p.M301I
c.903G>A
1 paper
NM_152903.5
p.Y290C
c.869A>G
1 paper
NM_152903.5
p.E260K
c.778G>A
1 paper
NM_152903.5
p.P251A
c.751C>G
5 papers
NM_152903.5
p.C359Y
c.1076G>A
1 paper
NM_152903.5
p.D360D
c.1080T>C
1 paper
NM_152903.5
p.P361P
c.1083A>T
1 paper
NM_152903.5
p.C240F
c.719G>T
1 paper
NM_152903.5
p.A399D
c.1196C>A
1 paper
NM_152903.5
p.R186H
c.557G>A
1 paper
NM_152903.5
p.T174T
c.522C>T
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