Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.S145P

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.S145P
c.433T>C
Surrounding Variants
1 paper
NM_018095.6
p.S145F
c.434C>T
1 paper
NM_018095.6
p.T144I
c.431C>T
1 paper
NM_018095.6
p.T144A
c.430A>G
1 paper
NM_018095.6
p.L143P
c.428T>C
1 paper
NM_018095.6
p.Q142R
c.425A>G
1 paper
NM_018095.6
p.E148K
c.442G>A
1 paper
NM_018095.6
p.Q142*
c.424C>T
1 paper
NM_018095.6
p.E149K
c.445G>A
1 paper
NM_018095.6
p.C150R
c.448T>C
1 paper
NM_018095.6
p.C150Y
c.449G>A
1 paper
NM_018095.6
p.S151P
c.451T>C
1 paper
NM_018095.6
p.S138L
c.413C>T
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