Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.E381G

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.E381G
c.1142A>G
Surrounding Variants
1 paper
NM_018095.6
p.E381K
c.1141G>A
1 paper
NM_018095.6
p.V382A
c.1145T>C
1 paper
NM_018095.6
p.L380P
c.1139T>C
1 paper
NM_018095.6
p.A383T
c.1147G>A
1 paper
NM_018095.6
p.A383V
c.1148C>T
1 paper
NM_018095.6
p.Q379R
c.1136A>G
1 paper
NM_018095.6
p.Q379*
c.1135C>T
1 paper
NM_018095.6
p.V384M
c.1150G>A
1 paper
NM_018095.6
p.V384A
c.1151T>C
1 paper
NM_018095.6
p.T378I
c.1133C>T
1 paper
NM_018095.6
p.T378A
c.1132A>G
1 paper
NM_018095.6
p.S385P
c.1153T>C
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