Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.E133G

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.E133G
c.398A>G
Surrounding Variants
1 paper
NM_018095.6
p.E133K
c.397G>A
1 paper
NM_018095.6
p.I134V
c.400A>G
1 paper
NM_018095.6
p.I134T
c.401T>C
1 paper
NM_018095.6
p.Q132R
c.395A>G
1 paper
NM_018095.6
p.Q132*
c.394C>T
1 paper
NM_018095.6
p.Y135C
c.404A>G
1 paper
NM_018095.6
p.E130G
c.389A>G
1 paper
NM_018095.6
p.V137A
c.410T>C
1 paper
NM_018095.6
p.E129K
c.385G>A
1 paper
NM_018095.6
p.S138P
c.412T>C
1 paper
NM_018095.6
p.S138L
c.413C>T
1 paper
NM_018095.6
p.A128V
c.383C>T
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