MTHFD1L c.1688G>T ;(p.R563L)

Variant ID: 6-151270231-G-T

NM_015440.4(MTHFD1L):c.1688G>T;(p.R563L)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Whole-exome sequencing identified recurrent and novel variants in benzene-induced leukemia.

Bmc Medical Genomics
Lin, Dafeng D; Wang, Dianpeng D; Li, Peimao P; Deng, Lihua L; Zhang, Zhimin Z; Zhang, Yanfang Y; Zhang, Ming M; Zhang, Naixing N
Publication Date: 2023-01-26

Variant appearance in text: rs61748674
PubMed Link: 36703207
Variant Present in the following documents:
  • 12920_2023_1442_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Mutations in SORL1 and MTHFDL1 possibly contribute to the development of Alzheimer's disease in a multigenerational Colombian Family.

Plos One
Tejada Moreno, Johanna Alexandra JA; Villegas Lanau, Andrés A; Madrigal Zapata, Lucia L; Baena Pineda, Ana Yulied AY; Velez Hernandez, Juan J; Campo Nieto, Omer O; Soto Ospina, Alejandro A; Araque Marín, Pedronel P; Rishishwar, Lavanya L; Norris, Emily T ET; Chande, Aroon T AT; Jordan, I King IK; Bedoya Berrio, Gabriel G
Publication Date: 2022

Variant appearance in text: rs61748674
PubMed Link: 35905044
Variant Present in the following documents:
  • Main text
  • pone.0269955.pdf
View BVdb publication page



Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology
Li, Na N; Wang, Jiahong J; Zhan, Xianquan X
Publication Date: 2021

Variant appearance in text: MTHFD1L: 1688G>T
PubMed Link: 34887858
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One
Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F
Publication Date: 2015

Variant appearance in text: rs61748674
PubMed Link: 25905921
Variant Present in the following documents:
  • pone.0123569.s008.xls, sheet 1
View BVdb publication page



Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics
Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J
Publication Date: 2015-03-12

Variant appearance in text: rs61748674
PubMed Link: 25887915
Variant Present in the following documents:
  • 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research
Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR
Publication Date: 2014-12-16

Variant appearance in text: rs61748674
PubMed Link: 25352556
Variant Present in the following documents:
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 12
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 5
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: rs61748674
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page