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PC c.434T>C ;(p.V145A)
Variant ID: 11-66638839-A-G
NM_001040716.1(
PC
):c.434T>C;(p.V145A)
This variant was identified in 6 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Homozygous SOD1 Variation L144S Produces a Severe Form of Amyotrophic Lateral Sclerosis in an Iranian Family.
Neurology. Genetics
Gagliardi, Delia D; Ahmadinejad, Minoo M; Del Bo, Roberto R; Meneri, Megi M; Comi, Giacomo Pietro GP; Corti, Stefania S; Ronchi, Dario D
Publication Date: 2022-02
Variant appearance in text: PC: 434T>C
PubMed Link:
34926808
Variant Present in the following documents:
NG2021017159.pdf
View BVdb publication page
Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.
Science Advances
Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X
Publication Date: 2020-07
Variant appearance in text: PC: 434T>C; Val145Ala
PubMed Link:
32832622
Variant Present in the following documents:
aba1773_Data_file_S1.xlsx, sheet 2
aba1773_Data_file_S1.xlsx, sheet 3
View BVdb publication page
Sources of discordance among germ-line variant classifications in ClinVar.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10
Variant appearance in text: PC: 434T>C; Val145Ala
PubMed Link:
28569743
Variant Present in the following documents:
gim201760x7.xlsx, sheet 2
View BVdb publication page
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015
Variant appearance in text: PC: V145A; rs28940591
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
View BVdb publication page
GESPA: classifying nsSNPs to predict disease association.
Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25
Variant appearance in text: PC: V145A
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page
A symmetrical tetramer for S. aureus pyruvate carboxylase in complex with coenzyme A.
Structure (London, England : 1993)
Yu, Linda P C LP; Xiang, Song S; Lasso, Gorka G; Gil, David D; Valle, Mikel M; Tong, Liang L
Publication Date: 2009-06-10
Variant appearance in text: PC: V145A
PubMed Link:
19523900
Variant Present in the following documents:
Main text
View BVdb publication page