AGAP2 c.2308+40G>T

Variant ID: 12-58124534-C-A

NM_001122772.2(AGAP2):c.2308+40G>T

This variant was identified in 9 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: rs2301551
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs2301551
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs2301551
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs2301551
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.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: rs2301551
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Insights from GWAS: emerging landscape of mechanisms underlying complex trait disease.

Bmc Genomics
Pal, Lipika R LR; Yu, Chen-Hsin CH; Mount, Stephen M SM; Moult, John J
Publication Date: 2015

Variant appearance in text: rs2301551
PubMed Link: 26110739
Variant Present in the following documents:
  • 1471-2164-16-S8-S4-S1.pdf
View BVdb publication page



Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis.

Journal Of Medical Genetics
Alcina, Antonio A; Fedetz, Maria M; Fernández, Oscar O; Saiz, Albert A; Izquierdo, Guillermo G; Lucas, Miguel M; Leyva, Laura L; García-León, Juan-Antonio JA; Abad-Grau, María Del Mar Mdel M; Alloza, Iraide I; Antigüedad, Alfredo A; Garcia-Barcina, María J MJ; Vandenbroeck, Koen K; Varadé, Jezabel J; de la Hera, Belén B; Arroyo, Rafael R; Comabella, Manuel M; Montalban, Xavier X; Petit-Marty, Natalia N; Navarro, Arcadi A; Otaegui, David D; Olascoaga, Javier J; Blanco, Yolanda Y; Urcelay, Elena E; Matesanz, Fuencisla F
Publication Date: 2013-01

Variant appearance in text: rs2301551
PubMed Link: 23160276
Variant Present in the following documents:
  • Main text
  • jmedgenet-2012-101085.pdf
View BVdb publication page



Identification of novel SNPs in glioblastoma using targeted resequencing.

Plos One
Keller, Andreas A; Harz, Christian C; Matzas, Mark M; Meder, Benjamin B; Katus, Hugo A HA; Ludwig, Nicole N; Fischer, Ulrike U; Meese, Eckart E
Publication Date: 2011

Variant appearance in text: rs2301551
PubMed Link: 21695249
Variant Present in the following documents:
  • pone.0018158.s001.xls, sheet 2
  • pone.0018158.s001.xls, sheet 4
View BVdb publication page



Analysis of 55 autoimmune disease and type II diabetes loci: further confirmation of chromosomes 4q27, 12q13.2 and 12q24.13 as type I diabetes loci, and support for a new locus, 12q13.3-q14.1.

Genes And Immunity
Cooper, J D JD; Walker, N M NM; Healy, B C BC; Smyth, D J DJ; Downes, K K; Todd, J A JA; ,
Publication Date: 2009-12

Variant appearance in text: rs2301551
PubMed Link: 19956108
Variant Present in the following documents:
  • Main text
View BVdb publication page