GLIS3 c.1608C>G ;(p.C536W)

Variant ID: 9-4117870-G-C

NM_001042413.1(GLIS3):c.1608C>G;(p.C536W)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: GLIS3: 1608C>G; Cys536Trp
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Case Report: Neonatal Diabetes Mellitus Caused by a Novel GLIS3 Mutation in Twins.

Frontiers In Endocrinology
London, Shira S; De Franco, Elisa E; Elias-Assad, Ghadir G; Barhoum, Marie Noufi MN; Felszer, Clari C; Paniakov, Marina M; Weiner, Scott A SA; Tenenbaum-Rakover, Yardena Y
Publication Date: 2021

Variant appearance in text: GLIS3: 1608C>G; Cys536Trp
PubMed Link: 34093443
Variant Present in the following documents:
  • Main text
  • fendo-12-673755.pdf
View BVdb publication page



GLIS1-3 transcription factors: critical roles in the regulation of multiple physiological processes and diseases.

Cellular And Molecular Life Sciences : Cmls
Jetten, Anton M AM
Publication Date: 2018-10

Variant appearance in text: GLIS3: Cys536Trp
PubMed Link: 29779043
Variant Present in the following documents:
  • Main text
View BVdb publication page



Expanding the Clinical Spectrum Associated With GLIS3 Mutations.

The Journal Of Clinical Endocrinology And Metabolism
Dimitri, P P; Habeb, A M AM; Gurbuz, F F; Garbuz, F F; Millward, A A; Wallis, S S; Moussa, K K; Akcay, T T; Taha, D D; Hogue, J J; Slavotinek, A A; Wales, J K H JK; Shetty, A A; Hawkes, D D; Hattersley, A T AT; Ellard, S S; De Franco, E E
Publication Date: 2015-10

Variant appearance in text: GLIS3: 1608C>G; Cys536Trp
PubMed Link: 26259131
Variant Present in the following documents:
  • Main text
View BVdb publication page



TRANSCRIPTION FACTOR GLI-SIMILAR 3 (GLIS3): IMPLICATIONS FOR THE DEVELOPMENT OF CONGENITAL HYPOTHYROIDISM.

Journal Of Endocrinology, Diabetes & Obesity
Lichti-Kaiser, Kristin K; ZeRuth, Gary G; Jetten, Anton M AM
Publication Date: 2014-04

Variant appearance in text: GLIS3: C536W
PubMed Link: 25133201
Variant Present in the following documents:
  • Main text
View BVdb publication page