Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.E96G

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.E96G
c.287A>G
Surrounding Variants
1 paper
NM_018095.6
p.E96K
c.286G>A
1 paper
NM_018095.6
p.A97T
c.289G>A
2 papers
NM_018095.6
p.A97V
c.290C>T
1 paper
NM_018095.6
p.H98Y
c.292C>T
1 paper
NM_018095.6
p.L94P
c.281T>C
1 paper
NM_018095.6
p.H98R
c.293A>G
1 paper
NM_018095.6
p.N99D
c.295A>G
2 papers
NM_018095.6
p.N99I
c.296A>T
1 paper
NM_018095.6
p.R100W
c.298C>T
1 paper
NM_018095.6
p.S92F
c.275C>T
1 paper
NM_018095.6
p.S92P
c.274T>C
1 paper
NM_018095.6
p.T91I
c.272C>T
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