LPIN2 (NM_014646.2) sequence variants

Editor(s): Hatem EL-SHANTI   

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    42 sequence variant(s) among 42  
 
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Flanking region
UTR region
Exonic region
Intronic region
 
5' flanking X
No variants
X 5' UTR
  c.-173A>T
Exon 1 X
No variants
Intron 1X
No variants
Exon 2 X
  Q44Hfs*13
Intron 2X
No variants
Exon 3 X
No variants
Intron 3X
  c.288+63G>A
Exon 4 X
  C181*
Intron 4X
  c.590+10_590+11dupTC
Exon 5 X
No variants
Intron 5X
No variants
Exon 6 X
No variants
Intron 6X
No variants
Exon 7 X
  p.?  R299W  A331S
  P348L  K387E
Intron 7X
  c.1168+44T>C  c.1169-3C>T
Exon 8 X
No variants
Intron 8X
No variants
Exon 9 X
  G428S  S439Wfs*15  E486Kfs*20
Intron 9X
  c.1456+29A>G
Exon 10 X
  L504F  R517H
Intron 10X
No variants
Exon 11 X
No variants
Intron 11X
  c.1620+5G>C
Exon 12 X
  R562Q  R564Kfs*3  R564Kfs*3
Intron 12X
No variants
Exon 13 X
  S579P  G596S
Intron 13X
No variants
Exon 14 X
  P599L  E601K  P626S
  D644G
Intron 14X
No variants
Exon 15 X
  G654D  W681Gfs*14
Intron 15X
No variants
Exon 16 X
No variants
Intron 16X
  c.2174+4_2174+5del  c.2174+74A>T
Exon 17 X
  Y732*  S734L  R736C
  A741=
Intron 17X
  c.2327+1G>C
Exon 18 X
No variants
Intron 18X
No variants
Exon 19 X
  G823A
Intron 19X
  c.2546+51T>A
Exon 20 X
  C874F  P875=
3' UTR X
  c.*3C>T
3' flanking X
No variants