Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.V364A

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.V364A
c.1091T>C
Surrounding Variants
1 paper
NM_018095.6
p.V364I
c.1090G>A
1 paper
NM_018095.6
p.I365V
c.1093A>G
1 paper
NM_018095.6
p.I365T
c.1094T>C
1 paper
NM_018095.6
p.A363V
c.1088C>T
1 paper
NM_018095.6
p.A363T
c.1087G>A
1 paper
NM_018095.6
p.Y366H
c.1096T>C
1 paper
NM_018095.6
p.N362N
c.1086C>T
1 paper
NM_018095.6
p.Y366C
c.1097A>G
1 paper
NM_018095.6
p.N362S
c.1085A>G
1 paper
NM_018095.6
p.Y367H
c.1099T>C
1 paper
NM_018095.6
p.Y367C
c.1100A>G
1 paper
NM_018095.6
p.S361P
c.1081T>C
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