GAA c.1607A>G ;(p.N536S)

Variant ID: 17-78084795-A-G

NM_000152.3(GAA):c.1607A>G;(p.N536S)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Impact of ADAR-induced editing of minor viral RNA populations on replication and transmission of SARS-CoV-2.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Ringlander, Johan J; Fingal, Joshua J; Kann, Hanna H; Prakash, Kasthuri K; Rydell, Gustaf G; Andersson, Maria M; Martner, Anna A; Lindh, Magnus M; Horal, Peter P; Hellstrand, Kristoffer K; Kann, Michael M
Publication Date: 2022-02-08

Variant appearance in text: GAA: N536S
PubMed Link: 35064076
Variant Present in the following documents:
  • pnas.2112663119.sapp.pdf
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: GAA: N536S
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Genome scale analysis of pathogenic variants targetable for single base editing.

Bmc Medical Genomics
Lavrov, Alexander V AV; Varenikov, Georgi G GG; Skoblov, Mikhail Yu MY
Publication Date: 2020-09-18

Variant appearance in text: GAA: 1607A>G
PubMed Link: 32948190
Variant Present in the following documents:
  • 12920_2020_735_MOESM1_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: Asn536Ser
PubMed Link: 28592556
Variant Present in the following documents:
  • 2345FileS1.xlsx, sheet 1
View BVdb publication page