Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD3
Variant:p.I513V

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
2 papers
NM_198439.3
p.I513V
c.1537A>G
Surrounding Variants
1 paper
NM_198439.3
p.Q495*
c.1483C>T
2 papers
NM_198439.3
p.S536T
c.1606T>A
1 paper
NM_198439.3
p.L556F
c.1668A>T
1 paper
NM_198439.3
p.L556F
c.1668A>C
1 paper
NM_198439.3
p.G558S
c.1672G>A
1 paper
NM_198439.3
p.S438N
c.1313G>A
1 paper
NM_198439.3
p.R359Q
c.1076G>A
1 paper
NM_198439.3
p.C354*
c.1062T>A
1 paper
NM_198439.3
p.G341*
c.1021G>T
1 paper
NM_198439.3
p.N305K
c.915T>G
1 paper
NM_198439.3
p.N305K
c.915T>A
1 paper
NM_198439.3
p.K295delFs
c.885delT
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