Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD3

KBTBD3

27 papers

Pfam Domains

BTBaa 1–70UCSCBTB/POZ domain
BTBaa 42–149UCSCBTB/POZ domain
BACKaa 154–256UCSCBTB And C-terminal Kelch
Kelch_1aa 392–441UCSCKelch motif
Kelch_1aa 540–586UCSCKelch motif

Gene Aliases

HGNC Name

kelch repeat and BTB domain containing 3

HGNC Previous Symbol

BKLHD3

Papers
RefSeq ID
Protein change
DNA change
1–12 of 35 variants
2 papers
NM_198439.3
p.I513V
c.1537A>G
2 papers
NM_198439.3
p.S536T
c.1606T>A
1 paper
NM_198439.3
p.Q13*
c.37C>T
1 paper
NM_198439.3
p.N26fs
c.76_77fs
1 paper
NM_198439.3
p.H34Y
c.100C>T
1 paper
NM_198439.3
p.F54L
c.160T>C
1 paper
NM_198439.3
p.F54L
c.162C>G
1 paper
NM_198439.3
p.F54L
c.162C>A
1 paper
NM_198439.3
p.R67C
c.199C>T
1 paper
NM_198439.3
p.C68R
c.202T>C
1 paper
NM_198439.3
p.T94A
c.280A>G
1 paper
NM_198439.3
p.L107L
c.321C>T
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