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

Editor(s): Ivona AKSENTIJEVICH   

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ADA2 (DADA2)AP1S3 (_)CARD14 (PRP/PSORS2)IL10 (IL10 deficiency)IL10RA (IL10R1 deficiency)IL10RB (IL10R2 deficiency)IL1RN (DIRA)IL36RN (DITRA)LACC1 (sJIA)LPIN2 (Majeed Syndrome)
MEFV (FMF)MVK (MKD/DSAP/RP)NCSTN (PASH)NLRC4 (AIFEC)NLRP1 (NAIAD)NLRP12 (NAPS12)NLRP3 (CAPS)NLRP7 (HYDM1)NOD2 (CD/BS/EOS)OTULIN (AIPDS)
PLCG2 (APLAID/PLAID)PSMA3 (CANDLE/PRAAS)PSMB4 (CANDLE/PRAAS)PSMB8 (JMP/NNS/CANDLE)PSMB9 (CANDLE/PRAAS)PSTPIP1 (PAPA)RBCK1 (PBMEI)
SH3BP2 (Cherubism)SLC29A3 (H syndrome)TMEM173 (SAVI)TNFAIP3 (AISBL)TNFRSF11A (TRAPS11)TNFRSF1A (TRAPS)TRNT1 (SIFD)

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Total current number of sequence variants for OTULIN : 3

* If you have new data: please send us a re-evaluation proposal here

HGVS sequence name
HGVS protein name
Classification *
Status *
Simple variant
Complex alleles
exon 5c.517delCp.Gly174Aspfs*2Not classifiedNot validated
 2017-04-28
exon 6c.731A>Gp.Tyr244CysNot classifiedNot validated
 2017-04-28
exon 6c.815T>Cp.Leu272ProNot classifiedNot validated
 2017-04-28