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.




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