Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.R127G

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.R127G
c.379C>G
Surrounding Variants
1 paper
NM_018095.6
p.R127*
c.379C>T
1 paper
NM_018095.6
p.L126P
c.377T>C
1 paper
NM_018095.6
p.A128T
c.382G>A
1 paper
NM_018095.6
p.L126F
c.376C>T
1 paper
NM_018095.6
p.A128V
c.383C>T
1 paper
NM_018095.6
p.E129K
c.385G>A
1 paper
NM_018095.6
p.K125E
c.373A>G
1 paper
NM_018095.6
p.V124A
c.371T>C
1 paper
NM_018095.6
p.E130G
c.389A>G
1 paper
NM_018095.6
p.T123I
c.368C>T
1 paper
NM_018095.6
p.T123A
c.367A>G
1 paper
NM_018095.6
p.Q132*
c.394C>T
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