Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.M167I

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.M167I
c.501G>A
Surrounding Variants
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.W168R
c.502T>C
1 paper
NM_018095.6
p.M167T
c.500T>C
1 paper
NM_018095.6
p.W168R
c.502T>A
1 paper
NM_018095.6
p.W168*
c.503G>A
1 paper
NM_018095.6
p.M167V
c.499A>G
1 paper
NM_018095.6
p.W168*
c.504G>A
1 paper
NM_018095.6
p.L169P
c.506T>C
1 paper
NM_018095.6
p.A170T
c.508G>A
1 paper
NM_018095.6
p.Q165R
c.494A>G
1 paper
NM_018095.6
p.A170V
c.509C>T
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