Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.S268P

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.S268P
c.802T>C
Surrounding Variants
1 paper
NM_018095.6
p.S268L
c.803C>T
1 paper
NM_018095.6
p.H267Y
c.799C>T
1 paper
NM_018095.6
p.T266I
c.797C>T
1 paper
NM_018095.6
p.A270T
c.808G>A
1 paper
NM_018095.6
p.T266A
c.796A>G
1 paper
NM_018095.6
p.A270V
c.809C>T
1 paper
NM_018095.6
p.V271M
c.811G>A
1 paper
NM_018095.6
p.R265C
c.793C>T
1 paper
NM_018095.6
p.V271A
c.812T>C
1 paper
NM_018095.6
p.S264F
c.791C>T
1 paper
NM_018095.6
p.S272P
c.814T>C
1 paper
NM_018095.6
p.S264P
c.790T>C
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