Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.R498Q

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.R498Q
c.1493G>A
Surrounding Variants
1 paper
NM_018095.6
p.R498*
c.1492C>T
1 paper
NM_018095.6
p.Y499C
c.1496A>G
1 paper
NM_018095.6
p.D497G
c.1490A>G
1 paper
NM_018095.6
p.D497N
c.1489G>A
1 paper
NM_018095.6
p.R496Q
c.1487G>A
1 paper
NM_018095.6
p.R496W
c.1486C>T
1 paper
NM_018095.6
p.V494A
c.1481T>C
1 paper
NM_018095.6
p.D503G
c.1508A>G
1 paper
NM_018095.6
p.Y493C
c.1478A>G
1 paper
NM_018095.6
p.Y493H
c.1477T>C
1 paper
NM_018095.6
p.I492T
c.1475T>C
1 paper
NM_018095.6
p.A504V
c.1511C>T
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