OCA2 c.2328T>A ;(p.A776=)

Variant ID: 15-28096538-A-T

NM_000275.2(OCA2):c.2328T>A;(p.A776=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Neoadjuvant PD-1 Blockade Combined With Chemotherapy Followed by Concurrent Immunoradiotherapy in Locally Advanced Anal Canal Squamous Cell Carcinoma Patients: Antitumor Efficacy, Safety and Biomarker Analysis.

Frontiers In Immunology
Xiao, WeiWei W; Yuan, Yan Y; Wang, SuiHai S; Liao, Zhidong Z; Cai, PeiQiang P; Chen, BaoQing B; Zhang, Rong R; Wang, Fang F; Zeng, ZhiFan Z; Gao, YuanHong Y
Publication Date: 2021

Variant appearance in text: OCA2: A776A
PubMed Link: 35095878
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Transcriptional and metabolic rewiring of colorectal cancer cells expressing the oncogenic KRASG13D mutation.

British Journal Of Cancer
Charitou, Theodosia T; Srihari, Sriganesh S; Lynn, Miriam A MA; Jarboui, Mohamed-Ali MA; Fasterius, Erik E; Moldovan, Max M; Shirasawa, Senji S; Tsunoda, Toshiyuki T; Ueffing, Marius M; Xie, Jianling J; Xin, Jin J; Wang, Xuemin X; Proud, Christopher G CG; Boldt, Karsten K; Al-Khalili Szigyarto, Cristina C; Kolch, Walter W; Lynn, David J DJ
Publication Date: 2019-07

Variant appearance in text: OCA2: Ala776Ala
PubMed Link: 31133691
Variant Present in the following documents:
  • 41416_2019_477_MOESM3_ESM.xlsx, sheet 3
View BVdb publication page



Report of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree.

Journal Of Dermatological Science
Hawkes, Jason E JE; Cassidy, Pamela B PB; Manga, Prashiela P; Boissy, Raymond E RE; Goldgar, David D; Cannon-Albright, Lisa L; Florell, Scott R SR; Leachman, Sancy A SA
Publication Date: 2013-01

Variant appearance in text: OCA2: A776A
PubMed Link: 23103111
Variant Present in the following documents:
  • Main text
View BVdb publication page