Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD2
Variant:p.V433delFs

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.V433delFs
c.1298_1299delCA
Surrounding Variants
1 paper
NM_015483.3
p.V433fs
c.1297_1298fs
1 paper
NM_015483.3
p.V433fs
c.1297_1298fs
1 paper
NM_015483.3
p.T410M
c.1229C>T
1 paper
NM_015483.3
p.S458I
c.1373G>T
1 paper
NM_015483.3
p.A464S
c.1390G>T
1 paper
NM_015483.3
p.A465S
c.1393G>T
1 paper
NM_015483.3
p.F467L
c.1399T>C
1 paper
NM_015483.3
p.F467L
c.1401T>G
1 paper
NM_015483.3
p.F467L
c.1401T>A
1 paper
NM_015483.3
p.D388D
c.1164T>C
1 paper
NM_015483.3
p.N482S
c.1445A>G
1 paper
NM_015483.3
p.L487L
c.1461C>T
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