Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.P311S

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.P311S
c.931C>T
Surrounding Variants
2 papers
NM_018095.6
p.P311L
c.932C>T
1 paper
NM_018095.6
p.R312W
c.934C>T
2 papers
NM_018095.6
p.I310F
c.928A>T
1 paper
NM_018095.6
p.I310V
c.928A>G
1 paper
NM_018095.6
p.R312ins2
c.935_936ins6
2 papers
NM_018095.6
p.S309F
c.926C>T
1 paper
NM_018095.6
p.R313ins2
c.937_938ins6
1 paper
NM_018095.6
p.G308R
c.922G>A
1 paper
NM_018095.6
p.M314V
c.940A>G
2 papers
NM_018095.6
p.P311_R313ins1
c.931_939dup9
1 paper
NM_018095.6
p.M314T
c.941T>C
1 paper
NM_018095.6
p.M314I
c.942G>T
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