Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.Y349H

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.Y349H
c.1045T>C
Surrounding Variants
1 paper
NM_018095.6
p.Y349C
c.1046A>G
1 paper
NM_018095.6
p.I348M
c.1044A>G
1 paper
NM_018095.6
p.I348T
c.1043T>C
1 paper
NM_018095.6
p.I348V
c.1042A>G
1 paper
NM_018095.6
p.A347V
c.1040C>T
1 paper
NM_018095.6
p.A347T
c.1039G>A
1 paper
NM_018095.6
p.D346_A347ins3
c.1038_1039ins9
1 paper
NM_018095.6
p.D346G
c.1037A>G
1 paper
NM_018095.6
p.D346ins2
c.1036_1037ins6
1 paper
NM_018095.6
p.D346N
c.1036G>A
1 paper
NM_018095.6
p.G352D
c.1055G>A
1 paper
NM_018095.6
p.T355A
c.1063A>G
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