Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD2
Variant:p.S183C

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.S183C
c.547A>T
Surrounding Variants
1 paper
NM_015483.3
p.H174Y
c.520C>T
1 paper
NM_015483.3
p.A168T
c.502G>A
1 paper
NM_015483.3
p.D167D
c.501C>T
1 paper
NM_015483.3
p.R209Q
c.626G>A
1 paper
NM_015483.3
p.A152A
c.456T>C
1 paper
NM_015483.3
p.L225_S226insFs
c.675_676ins7
1 paper
NM_015483.3
p.S226fs
c.676_677fs
1 paper
NM_015483.3
p.S138N
c.413G>A
1 paper
NM_015483.3
p.Q247E
c.739C>G
1 paper
NM_015483.3
p.Y250D
c.748T>G
1 paper
NM_015483.3
p.S252A
c.754T>G
1 paper
NM_015483.3
p.G262W
c.784G>T
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