Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD3
Variant:p.N305K

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
Selected Variant
1 paper
NM_198439.3
p.N305K
c.915T>G
Surrounding Variants
1 paper
NM_198439.3
p.N305K
c.915T>A
1 paper
NM_198439.3
p.K295delFs
c.885delT
1 paper
NM_198439.3
p.I275I
c.825T>A
1 paper
NM_198439.3
p.A274V
c.821C>T
1 paper
NM_198439.3
p.G341*
c.1021G>T
1 paper
NM_198439.3
p.C354*
c.1062T>A
1 paper
NM_198439.3
p.R359Q
c.1076G>A
1 paper
NM_198439.3
p.Y233C
c.698A>G
1 paper
NM_198439.3
p.M214I
c.642G>C
1 paper
NM_198439.3
p.Q199*
c.595C>T
1 paper
NM_198439.3
p.L191*
c.572T>G
1 paper
NM_198439.3
p.L191*
c.572T>A
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