GAA c.797C>T ;(p.P266L)

Variant ID: 17-78081460-C-T

NM_000152.3(GAA):c.797C>T;(p.P266L)

This variant was identified in 4 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: GAA: 797C>T
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page


Affinity purification of T7 RNA transcripts with homogeneous ends using ARiBo and CRISPR tags.

Rna (New York, N.Y.)
Salvail-Lacoste, Alix A; Di Tomasso, Geneviève G; Piette, Benjamin L BL; Legault, Pascale P
Publication Date: 2013-07

Variant appearance in text: GAA: P266L
PubMed Link: 23657939
Variant Present in the following documents:
  • Main text
  • 1003.pdf
View BVdb publication page


Asymmetry of 13C labeled 3-pyruvate affords improved site specific labeling of RNA for NMR spectroscopy.

Journal Of Biomolecular Nmr
Thakur, Chandar S CS; Dayie, T Kwaku TK
Publication Date: 2012-01

Variant appearance in text: GAA: P266L
PubMed Link: 22089526
Variant Present in the following documents:
  • Main text
  • 10858_2011_Article_9582.pdf
View BVdb publication page


Asymmetry of (13)C labeled 3-pyruvate affords improved site specific labeling of RNA for NMR spectroscopy.

Journal Of Biomolecular Nmr
Thakur, Chandar S CS; Dayie, T Kwaku TK
Publication Date: 2011-12

Variant appearance in text: GAA: P266L
PubMed Link: 22038649
Variant Present in the following documents:
  • Main text
View BVdb publication page