GAA c.1490C>G ;(p.A497G)

Variant ID: 17-78084578-C-G

NM_000152.3(GAA):c.1490C>G;(p.A497G)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Endothelial alpha globin is a nitrite reductase.

Nature Communications
Keller, T C Stevenson TCS; Lechauve, Christophe C; Keller, Alexander S AS; Broseghini-Filho, Gilson Brás GB; Butcher, Joshua T JT; Askew Page, Henry R HR; Islam, Aditi A; Tan, Zhe Yin ZY; DeLalio, Leon J LJ; Brooks, Steven S; Sharma, Poonam P; Hong, Kwangseok K; Xu, Wenhao W; Padilha, Alessandra Simão AS; Ruddiman, Claire A CA; Best, Angela K AK; Macal, Edgar E; Kim-Shapiro, Daniel B DB; Christ, George G; Yan, Zhen Z; Cortese-Krott, Miriam M MM; Ricart, Karina K; Patel, Rakesh R; Bender, Timothy P TP; Sonkusare, Swapnil K SK; Weiss, Mitchell J MJ; Ackerman, Hans H; Columbus, Linda L; Isakson, Brant E BE
Publication Date: 2022-10-27

Variant appearance in text: GAA: 1490C>G; Ala497Gly
PubMed Link: 36302779
Variant Present in the following documents:
  • 41467_2022_34154_MOESM3_ESM.xlsx, sheet 11
View BVdb publication page



Gene-specific machine learning model to predict the pathogenicity of BRCA2 variants.

Frontiers In Genetics
Khandakji, Mohannad N MN; Mifsud, Borbala B
Publication Date: 2022

Variant appearance in text: GAA: 1490C>G
PubMed Link: 36246618
Variant Present in the following documents:
  • Table1.xlsx, sheet 3
View BVdb publication page



Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications
Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B
Publication Date: 2020-04-09

Variant appearance in text: GAA: A497G
PubMed Link: 32273506
Variant Present in the following documents:
  • 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Whole-Genome Resequencing Identifies the Molecular Genetic Cause for the Absence of a Gy5 Glycinin Protein in Soybean PI 603408.

G3 (Bethesda, Md.)
Gillman, Jason D JD; Kim, Won-Seok WS; Song, Bo B; Oehrle, Nathan W NW; Tawari, Nilesh R NR; Liu, Shanshan S; Krishnan, Hari B HB
Publication Date: 2017-07-05

Variant appearance in text: GAA: Ala497Gly
PubMed Link: 28592556
Variant Present in the following documents:
  • 2345FileS1.xlsx, sheet 1
View BVdb publication page



Strain-dependent mutational effects for Pepino mosaic virus in a natural host.

Bmc Evolutionary Biology
Minicka, Julia J; Elena, Santiago F SF; Borodynko-Filas, Natasza N; Rubiś, Błażej B; Hasiów-Jaroszewska, Beata B
Publication Date: 2017-03-06

Variant appearance in text: GAA: A497G
PubMed Link: 28264646
Variant Present in the following documents:
  • Main text
View BVdb publication page