LPIN2 (NM_014646.2) sequence variants

Editor(s): Hatem EL-SHANTI   

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Total current number of sequence variants for LPIN2 : 18

*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.288+63G>Aintron 3c.288+63G>A-
T180fsexon 4c.540_541delp.Cys181*
A331Sexon 7c.991G>Tp.Ala331Ser
P348Lexon 7c.1043C>Tp.Pro348Leu
K387Eexon 7c.1159A>Gp.Lys387Glu
c.1168+44 T>Cintron 7c.1168+44 T>C-
p.Ser439Trpfs*15exon 9c.1312_1313delCTp.Ser439Trpfs*15
c.1456+29A>Gintron 9c.1456+29A>G-
L504Fexon 10c.1510C>Tp.Leu504Phe
E601Kexon 14c.1801G>Ap.Glu601Lys
P626Sexon 14c.1876C>Tp.Pro626Ser
c.2174+74 A>Tintron 16c.2174+74 A>T-
S734Lexon 17c.2201C>Tp.Ser734Leu
A741Aexon 17c.2223C>Tp.(=)
R776Sintron 17c.2327+1G>Cp.Arg776Serfs*66
c.2546+51 T>A intron 19c.2546+51 T>A -