Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.C426R

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.C426R
c.1276T>C
Surrounding Variants
1 paper
NM_018095.6
p.C426Y
c.1277G>A
1 paper
NM_018095.6
p.H427Y
c.1279C>T
1 paper
NM_018095.6
p.K425E
c.1273A>G
1 paper
NM_018095.6
p.H427R
c.1280A>G
1 paper
NM_018095.6
p.D424G
c.1271A>G
1 paper
NM_018095.6
p.D424N
c.1270G>A
1 paper
NM_018095.6
p.V428A
c.1283T>C
1 paper
NM_018095.6
p.T423I
c.1268C>T
1 paper
NM_018095.6
p.K429E
c.1285A>G
1 paper
NM_018095.6
p.T423A
c.1267A>G
1 paper
NM_018095.6
p.E422G
c.1265A>G
1 paper
NM_018095.6
p.E422K
c.1264G>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."