USP31 c.535G>A ;(p.G179S)

Variant ID: 16-23160057-C-T

NM_020718.3(USP31):c.535G>A;(p.G179S)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


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: USP31: G179S
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Exome sequencing in pooled DNA samples to identify maternal pre-eclampsia risk variants.

Scientific Reports
Kaartokallio, Tea T; Wang, Jingwen J; Heinonen, Seppo S; Kajantie, Eero E; Kivinen, Katja K; Pouta, Anneli A; Gerdhem, Paul P; Jiao, Hong H; Kere, Juha J; Laivuori, Hannele H
Publication Date: 2016-07-07

Variant appearance in text: rs139702277
PubMed Link: 27384325
Variant Present in the following documents:
  • Main text
  • srep29085-s2.xls, sheet 1
  • srep29085.pdf
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: USP31: G179S
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Publication Date: 2013-11

Variant appearance in text: USP31: G179S; rs139702277
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx, sheet 2
View BVdb publication page