Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD8

KBTBD8

39 papers

Pfam Domains

BTBaa 39–147UCSCBTB/POZ domain
BACKaa 152–254UCSCBTB And C-terminal Kelch
Kelch_1aa 330–377UCSCKelch motif
Kelch_1aa 379–428UCSCKelch motif
Kelch_1aa 470–516UCSCKelch motif

Gene Aliases

HGNC Name

kelch repeat and BTB domain containing 8

HGNC Alias Symbols

TA-KRP; KIAA1842

Papers
RefSeq ID
Protein change
DNA change
1–12 of 37 variants
4 papers
NM_032505.3
p.C420R
c.1258T>C
3 papers
NM_032505.3
p.F179L
c.535T>C
3 papers
NM_032505.3
p.F179L
c.537T>A
3 papers
NM_032505.3
p.F179L
c.537T>G
2 papers
NM_032505.3
p.P22T
c.64C>A
2 papers
NM_032505.3
p.L377I
c.1129C>A
1 paper
NM_032505.3
p.K9M
c.26A>T
1 paper
NM_032505.3
p.S20*
c.59C>A
1 paper
NM_032505.3
p.S20*
c.59C>G
1 paper
NM_032505.3
p.S24N
c.71G>A
1 paper
NM_032505.3
p.A26T
c.76G>A
1 paper
NM_032505.3
p.V55fs
c.163_164fs
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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."