DLC1 c.4525G>A ;(p.V1509I)

Variant ID: 8-12943382-C-T

NM_182643.2(DLC1):c.4525G>A;(p.V1509I)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: DLC1: V1509I
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics
Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A
Publication Date: 2023

Variant appearance in text: DLC1: 4525G>A; Val1509Ile
PubMed Link: 36923788
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
View BVdb publication page



Uncovering the rare variants of DLC1 isoform 1 and their functional effects in a Chinese sporadic congenital heart disease cohort.

Plos One
Lin, Bin B; Wang, Yufeng Y; Wang, Zhen Z; Tan, Huilian H; Kong, Xianghua X; Shu, Yang Y; Zhang, Yuchao Y; Huang, Yun Y; Zhu, Yufei Y; Xu, Heng H; Wang, Zhiqiang Z; Wang, Ping P; Ning, Guang G; Kong, Xiangyin X; Hu, Guohong G; Hu, Landian L
Publication Date: 2014

Variant appearance in text: rs142253103
PubMed Link: 24587289
Variant Present in the following documents:
View BVdb publication page