Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.S43L

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.S43L
c.128C>T
Surrounding Variants
1 paper
NM_018095.6
p.S43P
c.127T>C
1 paper
NM_018095.6
p.H42R
c.125A>G
1 paper
NM_018095.6
p.H42Y
c.124C>T
1 paper
NM_018095.6
p.R45H
c.134G>A
1 paper
NM_018095.6
p.S41L
c.122C>T
1 paper
NM_018095.6
p.S41P
c.121T>C
1 paper
NM_018095.6
p.V46M
c.136G>A
1 paper
NM_018095.6
p.V46A
c.137T>C
1 paper
NM_018095.6
p.R40Q
c.119G>A
1 paper
NM_018095.6
p.R40W
c.118C>T
1 paper
NM_018095.6
p.A47T
c.139G>A
1 paper
NM_018095.6
p.D39G
c.116A>G
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