Varaico: Literature-Extracted Genetic Variants

Gene:KLHL33
Variant:p.H393R

KLHL33

21 papers

Pfam Domains

BTBaa 103–204UCSCBTB/POZ domain
Kelch_1aa 261–309UCSCKelch motif
BTB_KLHL33aa 265–327UCSCKelch-like protein 33-like, BTB/POZ domain
BACKaa 339–441UCSCBTB And C-terminal Kelch
Kelch_KLHDC2_KLHL20_DRC7aa 579–777UCSCKLHDC2/KLHL20/DRC7 Kelch-repeats domain

Gene Aliases

HGNC Name

kelch like family member 33

HGNC Previous Name

kelch-like 33 (Drosophila)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001365790.2
p.H393R
c.1178A>G
Surrounding Variants
1 paper
NM_001109997.3
p.R230*
c.688C>T
1 paper
NM_001365790.2
p.G505ins1
c.1514_1515insGGA
1 paper
NM_001365790.2
p.L508L
c.1522C>T
2 papers
NM_001365790.2
p.V278I
c.832G>A
1 paper
NM_001365790.2
p.G263E
c.788G>A
1 paper
NM_001365790.2
p.R527Q
c.1580G>A
1 paper
NM_001365790.2
p.G542R
c.1624G>C
1 paper
NM_001365790.2
p.G542R
c.1624G>A
1 paper
NM_001365790.2
p.R576*
c.1726C>T
1 paper
NM_001365790.2
p.A722_A723insGGA
c.2164_2168ins9
1 paper
NM_001365790.2
p.H746Q
c.2238C>G
1 paper
NM_001365790.2
p.H746Q
c.2238C>A
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