Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.A479T

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.A479T
c.1435G>A
Surrounding Variants
1 paper
NM_018095.6
p.A479V
c.1436C>T
1 paper
NM_018095.6
p.S478F
c.1433C>T
1 paper
NM_018095.6
p.S478P
c.1432T>C
1 paper
NM_018095.6
p.P480S
c.1438C>T
1 paper
NM_018095.6
p.P480L
c.1439C>T
1 paper
NM_018095.6
p.S477N
c.1430G>A
1 paper
NM_018095.6
p.S481P
c.1441T>C
1 paper
NM_018095.6
p.W476*
c.1428G>A
1 paper
NM_018095.6
p.S481F
c.1442C>T
1 paper
NM_018095.6
p.W476*
c.1427G>A
1 paper
NM_018095.6
p.W476R
c.1426T>C
1 paper
NM_018095.6
p.W476R
c.1426T>A
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