Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.T506A

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.T506A
c.1516A>G
Surrounding Variants
1 paper
NM_018095.6
p.T506I
c.1517C>T
1 paper
NM_018095.6
p.Y507C
c.1520A>G
1 paper
NM_018095.6
p.A504V
c.1511C>T
1 paper
NM_018095.6
p.D503G
c.1508A>G
1 paper
NM_018095.6
p.L509F
c.1525C>T
1 paper
NM_018095.6
p.L509P
c.1526T>C
1 paper
NM_018095.6
p.D510N
c.1528G>A
1 paper
NM_018095.6
p.D510G
c.1529A>G
1 paper
NM_018095.6
p.A512T
c.1534G>A
1 paper
NM_018095.6
p.A512V
c.1535C>T
1 paper
NM_018095.6
p.Y499C
c.1496A>G
1 paper
NM_018095.6
p.T513A
c.1537A>G
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