Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.D420N

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.D420N
c.1258G>A
Surrounding Variants
1 paper
NM_018095.6
p.D420G
c.1259A>G
1 paper
NM_018095.6
p.T421A
c.1261A>G
1 paper
NM_018095.6
p.T421I
c.1262C>T
1 paper
NM_018095.6
p.C418Y
c.1253G>A
1 paper
NM_018095.6
p.C418R
c.1252T>C
1 paper
NM_018095.6
p.E422K
c.1264G>A
1 paper
NM_018095.6
p.E422G
c.1265A>G
1 paper
NM_018095.6
p.Q417R
c.1250A>G
1 paper
NM_018095.6
p.Q417*
c.1249C>T
1 paper
NM_018095.6
p.T423A
c.1267A>G
1 paper
NM_018095.6
p.T423I
c.1268C>T
1 paper
NM_018095.6
p.I416T
c.1247T>C
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