Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.A295V

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.A295V
c.884C>T
Surrounding Variants
2 papers
NM_018095.6
p.A296T
c.886G>A
1 paper
NM_018095.6
p.A296V
c.887C>T
1 paper
NM_018095.6
p.T294I
c.881C>T
1 paper
NM_018095.6
p.T294A
c.880A>G
2 papers
NM_018095.6
p.C297R
c.889T>C
1 paper
NM_018095.6
p.I293T
c.878T>C
1 paper
NM_018095.6
p.C297Y
c.890G>A
1 paper
NM_018095.6
p.I293V
c.877A>G
1 paper
NM_018095.6
p.Q292R
c.875A>G
1 paper
NM_018095.6
p.Q292*
c.874C>T
1 paper
NM_018095.6
p.H299Y
c.895C>T
1 paper
NM_018095.6
p.H299R
c.896A>G
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