Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD6
Variant:p.M1K

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.M1K
c.2T>A
Surrounding Variants
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
2 papers
NM_152903.5
p.R21G
c.61C>G
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
1 paper
NM_152903.5
p.Y95C
c.284A>G
1 paper
NM_152903.5
p.F96V
c.286T>G
1 paper
NM_152903.5
p.M114I
c.342G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."