CASP7 c.247+91C>T

Variant ID: 10-115481018-C-T

NM_001227.4(CASP7):c.247+91C>T

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs3814231
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: rs3814231
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Integrative Analysis of Omics Data Reveals Regulatory Network of CDK10 in Vitiligo Risk.

Frontiers In Genetics
Cai, Minglong M; Yuan, Tao T; Huang, He H; Gui, Lan L; Zhang, Li L; Meng, Ziyuan Z; Wu, Wenjuan W; Sheng, Yujun Y; Zhang, Xuejun X
Publication Date: 2021

Variant appearance in text: rs3814231
PubMed Link: 33679896
Variant Present in the following documents:
  • Main text
  • fgene-12-634553.pdf
View BVdb publication page



Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight
Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL
Publication Date: 2020-09-03

Variant appearance in text: rs3814231
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Susceptible loci associated with autoimmune disease as potential biomarkers for checkpoint inhibitor-induced immune-related adverse events.

Esmo Open
Hoefsmit, Esmée P EP; Rozeman, Elisa A EA; Haanen, John B A G JBAG; Blank, Christian U CU
Publication Date: 2019

Variant appearance in text: rs3814231
PubMed Link: 31423333
Variant Present in the following documents:
  • esmoopen-2018-000472supp001.pdf
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: rs3814231
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs3814231
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Bithionol blocks pathogenicity of bacterial toxins, ricin, and Zika virus.

Scientific Reports
Leonardi, William W; Zilbermintz, Leeor L; Cheng, Luisa W LW; Zozaya, Josue J; Tran, Sharon H SH; Elliott, Jeffrey H JH; Polukhina, Kseniya K; Manasherob, Robert R; Li, Amy A; Chi, Xiaoli X; Gharaibeh, Dima D; Kenny, Tara T; Zamani, Rouzbeh R; Soloveva, Veronica V; Haddow, Andrew D AD; Nasar, Farooq F; Bavari, Sina S; Bassik, Michael C MC; Cohen, Stanley N SN; Levitin, Anastasia A; Martchenko, Mikhail M
Publication Date: 2016-09-30

Variant appearance in text: rs3814231
PubMed Link: 27686742
Variant Present in the following documents:
  • Main text
  • srep34475.pdf
View BVdb publication page



Genetic Susceptibility to Vitiligo: GWAS Approaches for Identifying Vitiligo Susceptibility Genes and Loci.

Frontiers In Genetics
Shen, Changbing C; Gao, Jing J; Sheng, Yujun Y; Dou, Jinfa J; Zhou, Fusheng F; Zheng, Xiaodong X; Ko, Randy R; Tang, Xianfa X; Zhu, Caihong C; Yin, Xianyong X; Sun, Liangdan L; Cui, Yong Y; Zhang, Xuejun X
Publication Date: 2016

Variant appearance in text: rs3814231
PubMed Link: 26870082
Variant Present in the following documents:
  • Main text
  • fgene-07-00003.pdf
View BVdb publication page



Potentially functional polymorphisms in the CASP7 gene contribute to gastric adenocarcinoma susceptibility in an eastern Chinese population.

Plos One
Wang, Meng-Yun MY; Zhu, Mei-Ling ML; He, Jing J; Shi, Ting-Yan TY; Li, Qiao-Xin QX; Wang, Ya-Nong YN; Li, Jin J; Zhou, Xiao-Yan XY; Sun, Meng-Hong MH; Wang, Xiao-Feng XF; Yang, Ya-Jun YJ; Wang, Jiu-Cun JC; Jin, Li L; Wei, Qing-Yi QY
Publication Date: 2013

Variant appearance in text: rs3814231
PubMed Link: 24040159
Variant Present in the following documents:
  • Main text
  • pone.0074041.pdf
View BVdb publication page



Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.

Nature Genetics
Jin, Ying Y; Birlea, Stanca A SA; Fain, Pamela R PR; Ferrara, Tracey M TM; Ben, Songtao S; Riccardi, Sheri L SL; Cole, Joanne B JB; Gowan, Katherine K; Holland, Paulene J PJ; Bennett, Dorothy C DC; Luiten, Rosalie M RM; Wolkerstorfer, Albert A; van der Veen, J P Wietze JP; Hartmann, Anke A; Eichner, Saskia S; Schuler, Gerold G; van Geel, Nanja N; Lambert, Jo J; Kemp, E Helen EH; Gawkrodger, David J DJ; Weetman, Anthony P AP; Taïeb, Alain A; Jouary, Thomas T; Ezzedine, Khaled K; Wallace, Margaret R MR; McCormack, Wayne T WT; Picardo, Mauro M; Leone, Giovanni G; Overbeck, Andreas A; Silverberg, Nanette B NB; Spritz, Richard A RA
Publication Date: 2012-05-06

Variant appearance in text: rs3814231
PubMed Link: 22561518
Variant Present in the following documents:
  • Main text
  • nihms-370049.pdf
View BVdb publication page