Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.C471R

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.C471R
c.1411T>C
Surrounding Variants
1 paper
NM_018095.6
p.C471Y
c.1412G>A
1 paper
NM_018095.6
p.L470P
c.1409T>C
1 paper
NM_018095.6
p.L472F
c.1414C>T
1 paper
NM_018095.6
p.L470F
c.1408C>T
1 paper
NM_018095.6
p.L472P
c.1415T>C
1 paper
NM_018095.6
p.R469Q
c.1406G>A
1 paper
NM_018095.6
p.R469W
c.1405C>T
1 paper
NM_018095.6
p.T468I
c.1403C>T
1 paper
NM_018095.6
p.E474K
c.1420G>A
1 paper
NM_018095.6
p.T468A
c.1402A>G
1 paper
NM_018095.6
p.E474G
c.1421A>G
1 paper
NM_018095.6
p.F467S
c.1400T>C
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