Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.Y304H

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.Y304H
c.910T>C
Surrounding Variants
1 paper
NM_018095.6
p.V305M
c.913G>A
1 paper
NM_018095.6
p.D302G
c.905A>G
1 paper
NM_018095.6
p.D302N
c.904G>A
1 paper
NM_018095.6
p.G301E
c.902G>A
1 paper
NM_018095.6
p.G307E
c.920G>A
1 paper
NM_018095.6
p.G308R
c.922G>A
1 paper
NM_018095.6
p.G300S
c.898G>A
1 paper
NM_018095.6
p.H299R
c.896A>G
1 paper
NM_018095.6
p.H299Y
c.895C>T
2 papers
NM_018095.6
p.S309F
c.926C>T
2 papers
NM_018095.6
p.I310F
c.928A>T
1 paper
NM_018095.6
p.I310V
c.928A>G
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