MTHFR c.1319C>T ;(p.S440L)

Variant ID: 1-11854443-G-A

NM_005957.4(MTHFR):c.1319C>T;(p.S440L)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: MTHFR: 1319C>T; S440L
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



A Glance into MTHFR Deficiency at a Molecular Level.

International Journal Of Molecular Sciences
Savojardo, Castrense C; Babbi, Giulia G; Baldazzi, Davide D; Martelli, Pier Luigi PL; Casadio, Rita R
Publication Date: 2021-12-23

Variant appearance in text: MTHFR: S440L
PubMed Link: 35008593
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Glance into MTHFR Deficiency at a Molecular Level.

International Journal Of Molecular Sciences
Savojardo, Castrense C; Babbi, Giulia G; Baldazzi, Davide D; Martelli, Pier Luigi PL; Casadio, Rita R
Publication Date: 2021-12-23

Variant appearance in text: MTHFR: S440L
PubMed Link: 35008593
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency.

Frontiers In Neurology
Massadeh, Salam S; Umair, Muhammad M; Alaamery, Manal M; Alfadhel, Majid M
Publication Date: 2019

Variant appearance in text: MTHFR: 1319C>T; Ser440Leu
PubMed Link: 31068897
Variant Present in the following documents:
  • Main text
  • fneur-10-00411.pdf
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Transient overexpression of exogenous APOBEC3A causes C-to-U RNA editing of thousands of genes.

Rna Biology
Sharma, Shraddha S; Patnaik, Santosh K SK; Kemer, Zeynep Z; Baysal, Bora E BE
Publication Date: 2017-05-04

Variant appearance in text: MTHFR: S440L
PubMed Link: 27149507
Variant Present in the following documents:
  • Main text
View BVdb publication page