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GAA c.212A>T ;(p.H71L)
Variant ID: 17-78078597-A-T
NM_000152.3(
GAA
):c.212A>T;(p.H71L)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
K-Ras-Activated Cells Can Develop into Lung Tumors When Runx3-Mediated Tumor Suppressor Pathways Are Abrogated.
Molecules And Cells
Lee, You-Soub YS; Lee, Ja-Yeol JY; Song, Soo-Hyun SH; Kim, Da-Mi DM; Lee, Jung-Won JW; Chi, Xin-Zi XZ; Ito, Yoshiaki Y; Bae, Suk-Chul SC
Publication Date: 2020-10-31
Variant appearance in text: GAA: 212A>T
PubMed Link:
33115981
Variant Present in the following documents:
molce-43-889_Supple.xlsx, sheet 1
View BVdb publication page
Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.
Bmc Medical Genetics
Zhou, Yingjie Y; Tariq, Muhammad M; He, Sijie S; Abdullah, Uzma U; Zhang, Jianguo J; Baig, Shahid Mahmood SM
Publication Date: 2020-07-18
Variant appearance in text: GAA: 212A>T
PubMed Link:
32682410
Variant Present in the following documents:
12881_2020_1087_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page
Protein degradation and dynamic tRNA thiolation fine-tune translation at elevated temperatures.
Nucleic Acids Research
Tyagi, Kshitiz K; Pedrioli, Patrick G A PG
Publication Date: 2015-05-19
Variant appearance in text: GAA: H71L
PubMed Link:
25870413
Variant Present in the following documents:
Main text
gkv322.pdf
View BVdb publication page