Varaico: Literature-Extracted Genetic Variants

Gene:KLHL33

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
1–12 of 23 variants
2 papers
NM_001365790.2
p.R208G
c.622A>G
2 papers
NM_001365790.2
p.V278I
c.832G>A
1 paper
NM_001365790.2
p.R22K
c.65G>A
1 paper
NM_001365790.2
p.L65F
c.193C>T
1 paper
NM_001365790.2
p.L65V
c.193C>G
1 paper
NM_001365790.2
p.L143Q
c.428T>A
1 paper
NM_001365790.2
p.G145S
c.433G>A
1 paper
NM_001365790.2
p.G160D
c.479G>A
1 paper
NM_001365790.2
p.A183D
c.548C>A
1 paper
NM_001365790.2
p.G189R
c.565G>C
1 paper
NM_001365790.2
p.L241ins1
c.722_723insGGA
1 paper
NM_001365790.2
p.G263E
c.788G>A
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