ITGAM c.875G>A ;(p.R292H)

Variant ID: 16-31286886-G-A

NM_000632.3(ITGAM):c.875G>A;(p.R292H)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Prognostic significance of frequent CLDN18-ARHGAP26/6 fusion in gastric signet-ring cell cancer.

Nature Communications
Shu, Yang Y; Zhang, Weihan W; Hou, Qianqian Q; Zhao, Linyong L; Zhang, Shouyue S; Zhou, Jiankang J; Song, Xiaohai X; Zhang, Yan Y; Jiang, Dan D; Chen, Xinzu X; Wang, Peiqi P; Xia, Xuyang X; Liao, Fei F; Yin, Dandan D; Chen, Xiaolong X; Zhou, Xueyan X; Zhang, Duyu D; Yin, Senlin S; Yang, Kun K; Liu, Jianping J; Fu, Leilei L; Zhang, Lan L; Wang, Yuelan Y; Zhang, Junlong J; An, Yunfei Y; Cheng, Hua H; Zheng, Bin B; Sun, Hongye H; Zhao, Yinglan Y; Wang, Yongsheng Y; Xie, Dan D; Ouyang, Liang L; Wang, Ping P; Zhang, Wei W; Qiu, Meng M; Fu, Xianghui X; Dai, Lunzhi L; He, Gu G; Yang, Hanshuo H; Cheng, Wei W; Yang, Li L; Liu, Bo B; Li, Weimin W; Dong, Biao B; Zhou, Zongguang Z; Wei, Yuquan Y; Peng, Yong Y; Xu, Heng H; Hu, Jiankun J
Publication Date: 2018-06-30

Variant appearance in text: ITGAM: R292H
PubMed Link: 29961079
Variant Present in the following documents:
  • 41467_2018_4907_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25

Variant appearance in text: ITGAM: R292H; rs61755176
PubMed Link: 28440294
Variant Present in the following documents:
  • srep46105-s2.xls, sheet 8
View BVdb publication page



Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
Publication Date: 2017-01-05

Variant appearance in text: ITGAM: R292H; rs61755176
PubMed Link: 27270441
Variant Present in the following documents:
  • onc2016172x3.xls, sheet 3
View BVdb publication page



Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Publication Date: 2013-11

Variant appearance in text: ITGAM: R292H; rs61755176
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx, sheet 2
View BVdb publication page