Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.Y120H

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.Y120H
c.358T>C
Surrounding Variants
1 paper
NM_018095.6
p.I119T
c.356T>C
1 paper
NM_018095.6
p.I119V
c.355A>G
1 paper
NM_018095.6
p.H121R
c.362A>G
1 paper
NM_018095.6
p.Y118C
c.353A>G
1 paper
NM_018095.6
p.Y118H
c.352T>C
1 paper
NM_018095.6
p.D117G
c.350A>G
1 paper
NM_018095.6
p.T123A
c.367A>G
1 paper
NM_018095.6
p.T123I
c.368C>T
1 paper
NM_018095.6
p.V116A
c.347T>C
1 paper
NM_018095.6
p.V116I
c.346G>A
1 paper
NM_018095.6
p.V124A
c.371T>C
1 paper
NM_018095.6
p.L115P
c.344T>C
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