OTULIN (NM_138348.5) sequence variants
(GUM, AIPDS, FAM105B)

Editor(s): Ivona AKSENTIJEVICH   

How to submit a novel simple allele ?   How to submit a novel complex allele ?

Total current number of sequence variants for OTULIN : 3

*Name as first published or submitted to Infevers. May be different from the HGVS edited protein and sequence names.

Usual name*
HGVS sequence name
HGVS protein name
Simple variant
Complex alleles
G174Dfs*2exon 5c.517delCp.Gly174Aspfs*2
 2017-04-28
Y244Cexon 6c.731A>Gp.Tyr244Cys
 2017-04-28
L272Pexon 6c.815T>Cp.Leu272Pro
 2017-04-28