Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.H204R

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.H204R
c.611A>G
Surrounding Variants
1 paper
NM_018095.6
p.H204Y
c.610C>T
1 paper
NM_018095.6
p.R205H
c.614G>A
1 paper
NM_018095.6
p.L206S
c.617T>C
1 paper
NM_018095.6
p.L207F
c.619C>T
1 paper
NM_018095.6
p.L207P
c.620T>C
1 paper
NM_018095.6
p.T208A
c.622A>G
1 paper
NM_018095.6
p.T208I
c.623C>T
1 paper
NM_018095.6
p.L200F
c.598C>T
1 paper
NM_018095.6
p.F199L
c.597T>G
1 paper
NM_018095.6
p.F199L
c.597T>A
1 paper
NM_018095.6
p.D209N
c.625G>A
1 paper
NM_018095.6
p.D209G
c.626A>G
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