GAA c.176G>T ;(p.G59V)

Variant ID: 17-78078561-G-T

NM_000152.3(GAA):c.176G>T;(p.G59V)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E.

The Journal Of Clinical Investigation
Li, Chengcheng C; Wilborn, Jackson J; Pittman, Sara S; Daw, Jil J; Alonso-Pérez, Jorge J; Díaz-Manera, Jordi J; Weihl, Conrad C CC; Haller, Gabe G
Publication Date: 2023-06-15

Variant appearance in text: GAA: G59V
PubMed Link: 37317968
Variant Present in the following documents:
  • jci-133-168156-s148.xlsx, sheet 2
View BVdb publication page



Systems biology analysis of the Clostridioides difficile core-genome contextualizes microenvironmental evolutionary pressures leading to genotypic and phenotypic divergence.

Npj Systems Biology And Applications
Norsigian, Charles J CJ; Danhof, Heather A HA; Brand, Colleen K CK; Oezguen, Numan N; Midani, Firas S FS; Palsson, Bernhard O BO; Savidge, Tor C TC; Britton, Robert A RA; Spinler, Jennifer K JK; Monk, Jonathan M JM
Publication Date: 2020-10-20

Variant appearance in text: GAA: G59V
PubMed Link: 33082337
Variant Present in the following documents:
  • 41540_2020_Article_151.pdf
View BVdb publication page



Integrative molecular profiling identifies a novel cluster of estrogen receptor-positive breast cancer in very young women.

Cancer Science
Park, Charny C; Yoon, Kyong-Ah KA; Kim, Jihyun J; Park, In Hae IH; Park, Soo Jin SJ; Kim, Min Kyeong MK; Jang, Wooyeong W; Cho, Soo Young SY; Park, Boyoung B; Kong, Sun-Young SY; Lee, Eun Sook ES
Publication Date: 2019-05

Variant appearance in text: GAA: G59V
PubMed Link: 30811755
Variant Present in the following documents:
  • CAS-110-1760-s002.xlsx, sheet 2
View BVdb publication page



Transcriptomic signature reveals mechanism of flower bud distortion in witches'-broom disease of soybean (Glycine max).

Bmc Plant Biology
Jaiswal, Sarika S; Jadhav, Pravin V PV; Jasrotia, Rahul Singh RS; Kale, Prashant B PB; Kad, Snehal K SK; Moharil, Mangesh P MP; Dudhare, Mahendra S MS; Kheni, Jashminkumar J; Deshmukh, Amit G AG; Mane, Shyamsundar S SS; Nandanwar, Ravindra S RS; Penna, Suprasanna S; Manjaya, Joy G JG; Iquebal, Mir Asif MA; Tomar, Rukam Singh RS; Kawar, Prashant G PG; Rai, Anil A; Kumar, Dinesh D
Publication Date: 2019-01-15

Variant appearance in text: GAA: 176G>T; Gly59Val
PubMed Link: 30646861
Variant Present in the following documents:
  • 12870_2018_1601_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Mutational processes shape the landscape of TP53 mutations in human cancer.

Nature Genetics
Giacomelli, Andrew O AO; Yang, Xiaoping X; Lintner, Robert E RE; McFarland, James M JM; Duby, Marc M; Kim, Jaegil J; Howard, Thomas P TP; Takeda, David Y DY; Ly, Seav Huong SH; Kim, Eejung E; Gannon, Hugh S HS; Hurhula, Brian B; Sharpe, Ted T; Goodale, Amy A; Fritchman, Briana B; Steelman, Scott S; Vazquez, Francisca F; Tsherniak, Aviad A; Aguirre, Andrew J AJ; Doench, John G JG; Piccioni, Federica F; Roberts, Charles W M CWM; Meyerson, Matthew M; Getz, Gad G; Johannessen, Cory M CM; Root, David E DE; Hahn, William C WC
Publication Date: 2018-10

Variant appearance in text: GAA: G59V
PubMed Link: 30224644
Variant Present in the following documents:
  • NIHMS1501645-supplement-4.xlsx, sheet 1
View BVdb publication page