Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.Q165R

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.Q165R
c.494A>G
Surrounding Variants
1 paper
NM_018095.6
p.Q165*
c.493C>T
1 paper
NM_018095.6
p.L164P
c.491T>C
1 paper
NM_018095.6
p.L164F
c.490C>T
1 paper
NM_018095.6
p.M167V
c.499A>G
1 paper
NM_018095.6
p.M167T
c.500T>C
1 paper
NM_018095.6
p.C163Y
c.488G>A
1 paper
NM_018095.6
p.C163R
c.487T>C
1 paper
NM_018095.6
p.M167I
c.501G>T
1 paper
NM_018095.6
p.M167I
c.501G>C
1 paper
NM_018095.6
p.M167I
c.501G>A
1 paper
NM_018095.6
p.W168R
c.502T>C
1 paper
NM_018095.6
p.W168R
c.502T>A
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