Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.C217Y

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.C217Y
c.650G>A
Surrounding Variants
1 paper
NM_018095.6
p.C217R
c.649T>C
1 paper
NM_018095.6
p.S218P
c.652T>C
1 paper
NM_018095.6
p.P216P
c.648G>A
1 paper
NM_018095.6
p.S218F
c.653C>T
1 paper
NM_018095.6
p.Q219*
c.655C>T
1 paper
NM_018095.6
p.V215A
c.644T>C
1 paper
NM_018095.6
p.Q219R
c.656A>G
1 paper
NM_018095.6
p.V215I
c.643G>A
1 paper
NM_018095.6
p.N220D
c.658A>G
1 paper
NM_018095.6
p.G214R
c.640G>C
1 paper
NM_018095.6
p.G214R
c.640G>A
1 paper
NM_018095.6
p.P221L
c.662C>T
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