NLRP12 (NM_144687.2) sequence variants
(NALP12/PYPAF7/CLR19.3/PAN6/RNO2/Monarch-1)

Editor(s): Isabelle JERU   

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Total current number of sequence variants for NLRP12 : 35

*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
c.-140T>A5UTc.-140T>A-
 2009-12-10
c.-12C>T5UTc.-12C>T-
 2009-12-10
G39Vexon 1c.116G>Tp.Gly39Val
 2009-12-10
c.154G>A exon 1c.154G>A p.Gly52Ser
 2014-10-06
c.289+6G>Cintron 1c.289+6G>C-
 2012-03-13
c.289+18C>Tintron 1c.289+18C>T-
 2009-12-10
c.371-43C>Tintron 2c.371-43C>T-
 2009-12-10
D142Nexon 3c.424G>Ap.Asp142Asn
 2008-08-21
D203Dexon 3c.609C>Tp.(=)
 2008-08-21
T260Mexon 3c.779C>Tp.Thr260Met
 2011-01-28
P273Pexon 3c.819T>Cp.(=)
 2009-12-10
R284Xexon 3c.850C>Tp.Arg284*
 2008-03-04
D294Eexon 3c.882C>Gp.Asp294Glu
 2010-12-07
H304Yexon 3c.910C>Tp.His304Tyr
 2010-12-07
P319Rexon 3c.956C>Gp.Pro319Arg
 2008-08-21
R352Cexon 3c.1054C>Tp.Arg352Cys
 2011-02-07
F402Lexon 3c.1206C>Gp.Phe402Leu
 2008-03-04
G448Aexon 3c.1343G>Cp.Gly448Ala
 2008-08-21
A629Dexon 3c.1886C>Ap.Ala629Asp
 2014-07-30
G683Rexon 3c.2047G>Ap.Gly683Arg
 2013-05-30
c.2072+3insTintron 3c.2072+2dupT-
 2008-03-04
c.2243+35C>Tintron 4c.2243+35C>T-
 2009-12-10
Q798Qexon 5c.2394G>Ap.(=)
 2009-12-10
L823L(C>A)exon 6c.2469C>Ap.(=)
 2009-12-10
L823L(C>T)exon 6c.2469C>Tp.(=)
 2009-12-10
V901Lexon 7c.2701G>Cp.Val901Leu
 2009-12-10
L918Lexon 7c.2754G>Cp.(=)
 2009-12-10
c.2757-1G>Tintron 7c.2757-1G>T-
 2013-01-30
A928Aexon 8c.2784C>Tp.(=)
 2009-12-10
R944Rexon 8c.2830C>Ap.(=)
 2009-12-10
W959*exon 8c.2877G>Ap.Trp959*
 2015-12-28
I996Iexon 9c.2988C>Ap.(=)
 2009-12-10
R1016Xexon 9c.3046C>Tp.Arg1016*
 2009-12-10
c.3098+99G>Aintron 9c.3098+99G>A-
 2009-12-10
c.3099-33A>Gintron 9c.3099-33A>G-
 2009-12-10