Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.T527I

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.T527I
c.1580C>T
Surrounding Variants
1 paper
NM_018095.6
p.T527A
c.1579A>G
1 paper
NM_018095.6
p.N528D
c.1582A>G
1 paper
NM_018095.6
p.L526F
c.1576C>T
1 paper
NM_018095.6
p.L525P
c.1574T>C
1 paper
NM_018095.6
p.L529*
c.1586T>A
1 paper
NM_018095.6
p.Q530*
c.1588C>T
1 paper
NM_018095.6
p.V524A
c.1571T>C
1 paper
NM_018095.6
p.Q530R
c.1589A>G
1 paper
NM_018095.6
p.F531L
c.1591T>C
1 paper
NM_018095.6
p.F531L
c.1593T>G
1 paper
NM_018095.6
p.F531L
c.1593T>A
1 paper
NM_018095.6
p.V532M
c.1594G>A
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