GFM1 c.1990G>A ;(p.V664I)

Variant ID: 3-158408032-G-A

NM_024996.5(GFM1):c.1990G>A;(p.V664I)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Expanding the phenotypic spectrum of non-alcoholic fatty liver disease and hypertriglyceridemia.

Frontiers In Nutrition
Meroni, Marica M; Longo, Miriam M; Paolini, Erika E; Tria, Giada G; Ripolone, Michela M; Napoli, Laura L; Moggio, Maurizio M; Fracanzani, Anna Ludovica AL; Dongiovanni, Paola P
Publication Date: 2022

Variant appearance in text: rs62288347
PubMed Link: 36185699
Variant Present in the following documents:
  • Main text
  • fnut-09-967899.pdf
View BVdb publication page



Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities.

Nature Communications
Nichols, Caitlin A CA; Gibson, William J WJ; Brown, Meredith S MS; Kosmicki, Jack A JA; Busanovich, John P JP; Wei, Hope H; Urbanski, Laura M LM; Curimjee, Naomi N; Berger, Ashton C AC; Gao, Galen F GF; Cherniack, Andrew D AD; Dhe-Paganon, Sirano S; Paolella, Brenton R BR; Beroukhim, Rameen R
Publication Date: 2020-05-20

Variant appearance in text: rs62288347
PubMed Link: 32433464
Variant Present in the following documents:
  • 41467_2020_16399_MOESM5_ESM.xlsx, sheet 1
  • 41467_2020_16399_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: GFM1: V664I; rs62288347
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
View BVdb publication page



Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
Publication Date: 2019-02-19

Variant appearance in text: GFM1: V664I
PubMed Link: 30784590
Variant Present in the following documents:
  • mmc6.xlsx, sheet 1
View BVdb publication page



Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25

Variant appearance in text: GFM1: V664I; rs62288347
PubMed Link: 28440294
Variant Present in the following documents:
  • srep46105-s2.xls, sheet 9
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: GFM1: V664I; rs62288347
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.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: GFM1: V664I; rs62288347
PubMed Link: 25352556
Variant Present in the following documents:
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 7
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 2
View BVdb publication page



Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency.

Brain : A Journal Of Neurology
Kemp, John P JP; Smith, Paul M PM; Pyle, Angela A; Neeve, Vivienne C M VC; Tuppen, Helen A L HA; Schara, Ulrike U; Talim, Beril B; Topaloglu, Haluk H; Holinski-Feder, Elke E; Abicht, Angela A; Czermin, Birgit B; Lochmüller, Hanns H; McFarland, Robert R; Chinnery, Patrick F PF; Chrzanowska-Lightowlers, Zofia M A ZM; Lightowlers, Robert N RN; Taylor, Robert W RW; Horvath, Rita R
Publication Date: 2011-01

Variant appearance in text: GFM1: 1990G>A; Val664Ile
PubMed Link: 21169334
Variant Present in the following documents:
  • Main text
  • awq320.pdf
View BVdb publication page



Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.

Nucleic Acids Research
Wang, Wenyi W; Shen, Peidong P; Thiyagarajan, Sreedevi S; Lin, Shengrong S; Palm, Curtis C; Horvath, Rita R; Klopstock, Thomas T; Cutler, David D; Pique, Lynn L; Schrijver, Iris I; Davis, Ronald W RW; Mindrinos, Michael M; Speed, Terence P TP; Scharfe, Curt C
Publication Date: 2011-01

Variant appearance in text: GFM1: V664I; rs62288347
PubMed Link: 20843780
Variant Present in the following documents:
  • supp_gkq750_NAR-WangWetal-SuppTable-6.xls, sheet 1
View BVdb publication page