Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.W324*

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.W324*
c.972G>A
Surrounding Variants
1 paper
NM_018095.6
p.E325K
c.973G>A
1 paper
NM_018095.6
p.W324*
c.971G>A
1 paper
NM_018095.6
p.W324R
c.970T>C
1 paper
NM_018095.6
p.W324R
c.970T>A
1 paper
NM_018095.6
p.E325G
c.974A>G
1 paper
NM_018095.6
p.W326R
c.976T>C
1 paper
NM_018095.6
p.W326R
c.976T>A
1 paper
NM_018095.6
p.D323G
c.968A>G
2 papers
NM_018095.6
p.W326*
c.977G>A
1 paper
NM_018095.6
p.D323N
c.967G>A
2 papers
NM_018095.6
p.W326*
c.978G>A
1 paper
NM_018095.6
p.C327R
c.979T>C
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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."