Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.Q73R

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.Q73R
c.218A>G
Surrounding Variants
1 paper
NM_018095.6
p.Q73*
c.217C>T
1 paper
NM_018095.6
p.L74P
c.221T>C
1 paper
NM_018095.6
p.H75Y
c.223C>T
1 paper
NM_018095.6
p.H75L
c.224A>T
1 paper
NM_018095.6
p.H75R
c.224A>G
1 paper
NM_018095.6
p.E71G
c.212A>G
1 paper
NM_018095.6
p.E71K
c.211G>A
1 paper
NM_018095.6
p.R76W
c.226C>T
1 paper
NM_018095.6
p.R70Q
c.209G>A
1 paper
NM_018095.6
p.G69D
c.206G>A
1 paper
NM_018095.6
p.V78I
c.232G>A
1 paper
NM_018095.6
p.V78G
c.233T>G
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