Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.K52E

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.K52E
c.154A>G
Surrounding Variants
1 paper
NM_018095.6
p.M51V
c.151A>G
1 paper
NM_018095.6
p.L53P
c.158T>C
2 papers
NM_018095.6
p.I50T
c.149T>C
1 paper
NM_018095.6
p.C54R
c.160T>C
1 paper
NM_018095.6
p.I50V
c.148A>G
1 paper
NM_018095.6
p.C54Y
c.161G>A
1 paper
NM_018095.6
p.G49D
c.146G>A
1 paper
NM_018095.6
p.L55P
c.164T>C
1 paper
NM_018095.6
p.Q48R
c.143A>G
1 paper
NM_018095.6
p.E56K
c.166G>A
1 paper
NM_018095.6
p.Q48*
c.142C>T
1 paper
NM_018095.6
p.E56G
c.167A>G
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