Transcript #00024092 (NM_001044385.2, TMEM237 gene)

Transcript name transcript variant 1
Gene name TMEM237 (transmembrane protein 237)
Chromosome 2
Transcript - NCBI ID NM_001044385.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_001037850.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

69 entries on 1 page. Showing entries 1 - 69.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.-4343C>T r.(?) p.(=)
-/. - c.-12G>A r.(?) p.(=)
?/. - c.43-1G>C r.spl p.?
?/. - c.52C>T r.(?) p.(Arg18Ter)
+/. - c.52C>T r.(?) p.(Arg18Ter)
+/+ 2 c.52C>T r.(?) p.(Arg18*)
+/+ 2 c.52C>T r.(?) p.(Arg18*)
+/. - c.52C>T r.(?) p.(Arg18Ter)
+/+ 2 c.52C>T r.(?) p.(Arg18*)
+/+ 2 c.52C>T r.(?) p.(Arg18*)
+/+ 2 c.52C>T r.(?) p.(Arg18*)
+/+ 2 c.52C>T r.(?) p.(Arg18*)
+/+ 2 c.52C>T r.(?) p.(Arg18*)
+/+ 2 c.52C>T r.(?) p.(Arg18*)
+/+ 2 c.52C>T r.(?) p.(Arg18*)
+/+ 2 c.52C>T r.(?) p.(Arg18*)
+/+ 2 c.52C>T r.(?) p.(Arg18*)
+/+ 2 c.52C>T r.(?) p.(Arg18*)
+/+ 2 c.52C>T r.(?) p.(Arg18*)
+/+ 2 c.52C>T r.(?) p.(Arg18*)
+/. - c.52C>T r.(?) p.(Arg18Ter)
+/. 3 c.76C>T r.(?) p.(Gln26*)
+/+ 3 c.76C>T r.(?) p.(Gln26*)
+/. - c.76C>T r.(?) p.(Gln26*)
+?/. - c.76C>T r.(?) p.(Gln26*)
?/. - c.97C>T r.(?) p.(Arg33Cys)
-/. - c.136+8G>A r.(=) p.(=)
-/. - c.136+8G>A r.(=) p.(=)
?/. - c.139A>G r.(?) p.(Ser47Gly)
-?/. - c.194A>G r.(?) p.(Asn65Ser)
-?/. - c.205A>T r.(?) p.(Thr69Ser)
-?/. - c.275-9T>C r.(=) p.(=)
-?/. - c.298A>G r.(?) p.(Lys100Glu)
?/. - c.317C>G r.(?) p.(Ser106Cys)
?/. - c.317C>G r.(?) p.(Ser106Cys)
-?/. - c.348G>A r.(?) p.(Ala116=)
-?/. - c.348G>A r.(?) p.(Ala116=)
-?/. - c.348G>A r.(?) p.(Ala116=)
-/. - c.395+7A>G r.(=) p.(=)
+/. - c.418C>T r.(?) p.(Gln140Ter)
-?/. - c.439G>A r.(?) p.(Val147Ile)
-?/. - c.475A>G r.(?) p.(Thr159Ala)
?/. - c.499A>G r.(?) p.(Thr167Ala)
-/. - c.554-56del r.(=) p.(=)
-?/. - c.554-10G>A r.(=) p.(=)
?/. - c.664C>T r.(?) p.(His222Tyr)
+/+ 8i c.677+1G>T r.[560_751del, 554_677del] p.[Phe187_Ala251delinsSer, Arg186*]
+/+ 8i c.677+1G>T r.[560_751del, 554_677del] p.[Phe187_Ala251delinsSer, Arg186*]
+/+ 8i c.677+1G>T r.[560_751del, 554_677del] p.[Phe187_Ala251delinsSer, Arg186*]
-/. - c.677+116T>C r.(=) p.(=)
+/. 9 c.709del r.(?) p.(Ala237Leufs*10)
+/. 9 c.709del r.(?) p.(Ala237Leufs*10)
+/. 9i c.869+1G>A r.spl? p.M227_R290del
+/+ 9i c.869+1G>A r.678_869del p.Met227_Arg290del
+?/. - c.869+1G>A r.678_869del p.(Met227_Arg290del)
-/. - c.870-13_870-12del r.(=) p.(=)
-?/. - c.870-13_870-12del r.(=) p.(=)
+?/. - c.943+1G>T r.spl p.(?)
+/. - c.943+1G>T r.spl? p.?
+/. 10i c.943+1G>T r.spl? p.?
+/+ 10i c.943+1G>T r.870_1037del p.Ile291_Trp346del
-?/. - c.1065C>G r.(?) p.(Leu355=)
+/. - c.1066dup r.(?) p.(Gln356ProfsTer24)
+/+ 12 c.1066dup r.(?) p.(Gln356Profs*24)
-/. - c.1096G>T r.(?) p.(Ala366Ser)
-?/. - c.1096G>T r.(?) p.(Ala366Ser)
-?/. - c.1096G>T r.(?) p.(Ala366Ser)
-?/. - c.1182G>A r.(?) p.(Val394=)
?/. - c.*5303C>A r.(=) p.(=)
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