Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.E241G

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.E241G
c.722A>G
Surrounding Variants
1 paper
NM_018095.6
p.S242L
c.725C>T
1 paper
NM_018095.6
p.A240V
c.719C>T
1 paper
NM_018095.6
p.L243F
c.727C>T
1 paper
NM_018095.6
p.L243P
c.728T>C
1 paper
NM_018095.6
p.R244G
c.730A>G
1 paper
NM_018095.6
p.R244K
c.731G>A
1 paper
NM_018095.6
p.T245A
c.733A>G
1 paper
NM_018095.6
p.T245I
c.734C>T
1 paper
NM_018095.6
p.S246G
c.736A>G
1 paper
NM_018095.6
p.S246N
c.737G>A
1 paper
NM_018095.6
p.R236K
c.707G>A
1 paper
NM_018095.6
p.E235G
c.704A>G
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