Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.I250V

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.I250V
c.748A>G
Surrounding Variants
1 paper
NM_018095.6
p.E249G
c.746A>G
1 paper
NM_018095.6
p.G251E
c.752G>A
1 paper
NM_018095.6
p.E252K
c.754G>A
1 paper
NM_018095.6
p.H255Y
c.763C>T
1 paper
NM_018095.6
p.H255R
c.764A>G
1 paper
NM_018095.6
p.I256V
c.766A>G
1 paper
NM_018095.6
p.Y257C
c.770A>G
1 paper
NM_018095.6
p.G260E
c.779G>A
1 paper
NM_018095.6
p.S263P
c.787T>C
1 paper
NM_018095.6
p.S263L
c.788C>T
1 paper
NM_018095.6
p.S264P
c.790T>C
1 paper
NM_018095.6
p.S264F
c.791C>T
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