Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.A81V

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
2 papers
NM_018095.6
p.A81V
c.242C>T
Surrounding Variants
1 paper
NM_018095.6
p.A81T
c.241G>A
1 paper
NM_018095.6
p.Q82*
c.244C>T
1 paper
NM_018095.6
p.Q82R
c.245A>G
1 paper
NM_018095.6
p.S80P
c.238T>C
1 paper
NM_018095.6
p.L79P
c.236T>C
1 paper
NM_018095.6
p.S83N
c.248G>A
1 paper
NM_018095.6
p.L79F
c.235C>T
1 paper
NM_018095.6
p.C84R
c.250T>C
1 paper
NM_018095.6
p.V78G
c.233T>G
1 paper
NM_018095.6
p.V78A
c.233T>C
1 paper
NM_018095.6
p.C84Y
c.251G>A
1 paper
NM_018095.6
p.V78I
c.232G>A
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