Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.R332W

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.R332W
c.994C>T
Surrounding Variants
2 papers
NM_018095.6
p.D333N
c.997G>A
1 paper
NM_018095.6
p.R334W
c.1000C>T
1 paper
NM_018095.6
p.R334Q
c.1001G>A
1 paper
NM_018095.6
p.P329L
c.986C>T
1 paper
NM_018095.6
p.L335F
c.1003C>T
1 paper
NM_018095.6
p.L335Fs
c.1003delinsGAFs
1 paper
NM_018095.6
p.L335P
c.1004T>C
1 paper
NM_018095.6
p.A328V
c.983C>T
1 paper
NM_018095.6
p.Q336*
c.1006C>T
1 paper
NM_018095.6
p.Q336R
c.1007A>G
1 paper
NM_018095.6
p.C327Y
c.980G>A
1 paper
NM_018095.6
p.C327R
c.979T>C
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