Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.L392P

KBTBD4

37 papers

Pfam Domains

BTBaa 51–157UCSCBTB/POZ domain
BACKaa 163–250UCSCBTB And C-terminal Kelch
Kelch_2aa 290–331UCSCKelch motif

Gene Aliases

HGNC Name

kelch repeat and BTB domain containing 4

HGNC Previous Symbol

BKLHD4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018095.6
p.L392P
c.1175T>C
Surrounding Variants
1 paper
NM_018095.6
p.A390T
c.1168G>A
1 paper
NM_018095.6
p.I395V
c.1183A>G
1 paper
NM_018095.6
p.I395T
c.1184T>C
1 paper
NM_018095.6
p.I396V
c.1186A>G
1 paper
NM_018095.6
p.I396T
c.1187T>C
1 paper
NM_018095.6
p.A388V
c.1163C>T
1 paper
NM_018095.6
p.A388T
c.1162G>A
1 paper
NM_018095.6
p.Y397H
c.1189T>C
1 paper
NM_018095.6
p.Y397C
c.1190A>G
1 paper
NM_018095.6
p.L398S
c.1193T>C
1 paper
NM_018095.6
p.G386R
c.1156G>C
1 paper
NM_018095.6
p.G386R
c.1156G>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."