Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.S138L

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.S138L
c.413C>T
Surrounding Variants
1 paper
NM_018095.6
p.S138P
c.412T>C
1 paper
NM_018095.6
p.V137A
c.410T>C
1 paper
NM_018095.6
p.Y135C
c.404A>G
1 paper
NM_018095.6
p.Q142*
c.424C>T
1 paper
NM_018095.6
p.I134T
c.401T>C
1 paper
NM_018095.6
p.Q142R
c.425A>G
1 paper
NM_018095.6
p.I134V
c.400A>G
1 paper
NM_018095.6
p.L143P
c.428T>C
1 paper
NM_018095.6
p.E133G
c.398A>G
1 paper
NM_018095.6
p.E133K
c.397G>A
1 paper
NM_018095.6
p.T144A
c.430A>G
1 paper
NM_018095.6
p.T144I
c.431C>T
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