Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.C317Y

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.C317Y
c.950G>A
Surrounding Variants
1 paper
NM_018095.6
p.C317R
c.949T>C
1 paper
NM_018095.6
p.N318S
c.953A>G
1 paper
NM_018095.6
p.W315*
c.945G>A
1 paper
NM_018095.6
p.W315*
c.944G>A
2 papers
NM_018095.6
p.W315R
c.943T>C
2 papers
NM_018095.6
p.W315R
c.943T>A
1 paper
NM_018095.6
p.M314I
c.942G>T
1 paper
NM_018095.6
p.M314I
c.942G>C
1 paper
NM_018095.6
p.M314I
c.942G>A
1 paper
NM_018095.6
p.M314T
c.941T>C
1 paper
NM_018095.6
p.A320V
c.959C>T
1 paper
NM_018095.6
p.M314V
c.940A>G
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