SI c.188G>C ;(p.C63S)

Variant ID: 3-164792386-C-G

NM_001041.3(SI):c.188G>C;(p.C63S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Macrocyclization and Backbone Rearrangement During RiPP Biosynthesis by a SAM-Dependent Domain-of-Unknown-Function 692.

Acs Central Science
Ayikpoe, Richard S RS; Zhu, Lingyang L; Chen, Jeff Y JY; Ting, Chi P CP; van der Donk, Wilfred A WA
Publication Date: 2023-05-24

Variant appearance in text: SI: C63S
PubMed Link: 37252350
Variant Present in the following documents:
  • oc3c00160_si_003.pdf
View BVdb publication page



Reciprocal antagonistic regulation of E3 ligases controls ACC synthase stability and responses to stress.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Lee, Han Yong HY; Park, Hye Lin HL; Park, Chanung C; Chen, Yi-Chun YC; Yoon, Gyeong Mee GM
Publication Date: 2021-08-24

Variant appearance in text: SI: C63S
PubMed Link: 34404725
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.

Human Mutation
Mendes, Marisa I MI; Smith, Desirée Ec DE; Pop, Ana A; Lennertz, Pascal P; Fernandez Ojeda, Matilde R MR; Kanhai, Warsha A WA; van Dooren, Silvy Jm SJ; Anikster, Yair Y; Barić, Ivo I; Boelen, Caroline C; Campistol, Jaime J; de Boer, Lonneke L; Kariminejad, Ariana A; Kayserili, Hulya H; Roubertie, Agathe A; Verbruggen, Krijn T KT; Vianey-Saban, Christine C; Williams, Monique M; Salomons, Gajja S GS
Publication Date: 2017-05

Variant appearance in text: SI: 188G>C
PubMed Link: 28101991
Variant Present in the following documents:
  • Main text
  • HUMU-38-524.pdf
View BVdb publication page