Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.H189Y

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.H189Y
c.565C>T
Surrounding Variants
1 paper
NM_018095.6
p.H189R
c.566A>G
2 papers
NM_018095.6
p.T188I
c.563C>T
1 paper
NM_018095.6
p.T188A
c.562A>G
1 paper
NM_018095.6
p.L190P
c.569T>C
1 paper
NM_018095.6
p.A191T
c.571G>A
1 paper
NM_018095.6
p.A191V
c.572C>T
1 paper
NM_018095.6
p.A186V
c.557C>T
1 paper
NM_018095.6
p.A186T
c.556G>A
1 paper
NM_018095.6
p.Q192*
c.574C>T
1 paper
NM_018095.6
p.Q192R
c.575A>G
1 paper
NM_018095.6
p.C185Y
c.554G>A
1 paper
NM_018095.6
p.C185R
c.553T>C
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