Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD2
Variant:p.S604*

KBTBD2

39 papers

Pfam Domains

BTBaa 21–128UCSCBTB/POZ domain
BACKaa 133–235UCSCBTB And C-terminal Kelch
Kelch_1aa 372–416UCSCKelch motif

Gene Aliases

HGNC Name

kelch repeat and BTB domain containing 2

HGNC Previous Symbol

BKLHD1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015483.3
p.S604*
c.1811C>G
Surrounding Variants
1 paper
NM_015483.3
p.S604*
c.1811C>A
1 paper
NM_015483.3
p.P595insFs
c.1785dupA
1 paper
NM_015483.3
p.S594Y
c.1781C>A
1 paper
NM_015483.3
p.C590F
c.1769G>T
1 paper
NM_015483.3
p.P621S
c.1861C>T
1 paper
NM_015483.3
p.L586_Y587delFs
c.1758_1759delAG
1 paper
NM_015483.3
p.W573*
c.1718G>A
1 paper
NM_015483.3
p.R564L
c.1691G>T
1 paper
NM_015483.3
p.T551P
c.1651A>C
1 paper
NM_015483.3
p.Y549Y
c.1647C>T
1 paper
NM_015483.3
p.R546*
c.1636C>T
1 paper
NM_015483.3
p.E545K
c.1633G>A
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