Transcript #00014015 (NM_005956.3, MTHFD1 gene)

Transcript name methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
Gene name MTHFD1 (methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase)
Chromosome 14
Transcript - NCBI ID NM_005956.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_005947.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

38 entries on 1 page. Showing entries 1 - 38.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.53C>T r.(?) p.(Ala18Val)
?/. - c.120A>G r.(?) p.(Ile40Met)
-?/. - c.282A>G r.(?) p.(Val94=)
?/. - c.347A>G r.(?) p.(Asn116Ser)
+/. - c.517C>T r.(?) p.(Arg173Cys)
?/. - c.518G>A r.(?) p.(Arg173His)
-?/. - c.567T>C r.(?) p.(Asn189=)
-?/. - c.582C>A r.(?) p.(Thr194=)
-?/. - c.616G>A r.(?) p.(Val206Ile)
-?/. - c.646A>G r.(?) p.(Thr216Ala)
-?/. - c.855+13A>C r.(=) p.(=)
-?/. - c.878G>A r.(?) p.(Arg293His)
?/. - c.878G>A r.(?) p.(Arg293His)
?/. - c.983C>T r.(?) p.(Pro328Leu)
?/. - c.1043A>G r.(?) p.(Tyr348Cys)
-/. - c.1128-16del r.(=) p.(=)
-?/. - c.1128-10C>T r.(=) p.(=)
-?/. - c.1128-10C>T r.(=) p.(=)
-?/. - c.1128-9G>A r.(=) p.(=)
-?/. - c.1312-6T>C r.(=) p.(=)
-?/. - c.1390A>G r.(?) p.(Ile464Val)
+/. - c.1400_1401del r.(?) p.(Glu467Alafs*10)
+/. - c.1402C>T r.(?) p.(Leu468=)
-?/. - c.1494+20C>A r.(=) p.(=)
-?/. - c.1561T>C r.(?) p.(Leu521=)
?/. - c.1618T>G r.(?) p.(Phe540Val)
-?/. - c.1779C>T r.(?) p.(Ser593=)
?/. - c.1807G>A r.(?) p.(Glu603Lys)
-?/. - c.2079C>T r.(?) p.(His693=)
?/. - c.2128G>A r.(?) p.(Gly710Ser)
-?/. - c.2170A>G r.(?) p.(Ile724Val)
-/. - c.2282C>T r.(?) p.(Thr761Met)
?/. - c.2314C>T r.(?) p.(Arg772Cys)
-/. - c.2315G>A r.(?) p.(Arg772His)
-?/. - c.2530G>A r.(?) p.(Glu844Lys)
-?/. - c.2566-6C>T r.(=) p.(=)
?/. - c.2627A>G r.(?) p.(Glu876Gly)
?/. - c.2668G>A r.(?) p.(Asp890Asn)
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