AVPR2 c.337C>T ;(p.R113W)

Variant ID: X-153171297-C-T

NM_000054.4(AVPR2):c.337C>T;(p.R113W)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Play the plug: How bacteria modify recognition by host receptors?

Frontiers In Microbiology
Tiruvayipati, Suma S; Hameed, Dharjath S DS; Ahmed, Niyaz N
Publication Date: 2022

Variant appearance in text: AVPR2: R113W
PubMed Link: 36312954
Variant Present in the following documents:
  • fmicb-13-960326.pdf
View BVdb publication page



Integrating Population Variants and Protein Structural Analysis to Improve Clinical Genetic Diagnosis and Treatment in Nephrogenic Diabetes Insipidus.

Frontiers In Pediatrics
Liao, Panli P; Xiang, Tianchao T; Li, Hongxia H; Fang, Ye Y; Fang, Xiaoyan X; Zhang, Zhiqing Z; Cao, Qi Q; Zhai, Yihui Y; Chen, Jing J; Xu, Linan L; Liu, Jialu J; Tang, Xiaoshan X; Liu, Xiaorong X; Wang, Xiaowen X; Luan, Jiangwei J; Shen, Qian Q; Chen, Lizhi L; Jiang, Xiaoyun X; Ma, Duan D; Xu, Hong H; Rao, Jia J
Publication Date: 2021

Variant appearance in text: AVPR2: Arg113Trp
PubMed Link: 33996673
Variant Present in the following documents:
  • Data_Sheet_1.pdf
View BVdb publication page



Characterization of five novel vasopressin V2 receptor mutants causing nephrogenic diabetes insipidus reveals a role of tolvaptan for M272R-V2R mutation.

Scientific Reports
Prosperi, Federica F; Suzumoto, Yoko Y; Marzuillo, Pierluigi P; Costanzo, Vincenzo V; Jelen, Sabina S; Iervolino, Anna A; Guarino, Stefano S; La Manna, Angela A; Miraglia Del Giudice, Emanuele E; Perna, Alessandra F AF; Zacchia, Miriam M; Cordat, Emmanuelle E; Capasso, Giovambattista G; Trepiccione, Francesco F
Publication Date: 2020-10-02

Variant appearance in text: V2R: R113W
PubMed Link: 33009446
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_73089.pdf
View BVdb publication page



Common activation mechanism of class A GPCRs.

Elife
Zhou, Qingtong Q; Yang, Dehua D; Wu, Meng M; Guo, Yu Y; Guo, Wanjing W; Zhong, Li L; Cai, Xiaoqing X; Dai, Antao A; Jang, Wonjo W; Shakhnovich, Eugene I EI; Liu, Zhi-Jie ZJ; Stevens, Raymond C RC; Lambert, Nevin A NA; Babu, M Madan MM; Wang, Ming-Wei MW; Zhao, Suwen S
Publication Date: 2019-12-19

Variant appearance in text: V2R: R113W
PubMed Link: 31855179
Variant Present in the following documents:
  • elife-50279-fig7-data1.xlsx, sheet 1
View BVdb publication page



Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine
Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T
Publication Date: 2017-07-18

Variant appearance in text: AVPR2: R113W
PubMed Link: 28716134
Variant Present in the following documents:
  • 13073_2017_454_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Study of V2 vasopressin receptor hormone binding site using in silico methods.

Research In Pharmaceutical Sciences
Sebti, Yeganeh Y; Sardari, Soroush S; Sadeghi, Hamid Mir Mohammad HM; Ghahremani, Mohammad Hossein MH; Innamorati, Giulio G
Publication Date: 2015

Variant appearance in text: V2R: R113W
PubMed Link: 26600856
Variant Present in the following documents:
  • Main text
  • RPS-10-288.pdf
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: AVPR2: R113W
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: AVPR2: R113W
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page



Clinical overview of nephrogenic diabetes insipidus based on a nationwide survey in Japan.

Yonago Acta Medica
Fujimoto, Masanobu M; Okada, Shin-Ichi S; Kawashima, Yuki Y; Nishimura, Rei R; Miyahara, Naoki N; Kawaba, Yasuo Y; Hanaki, Keiichi K; Nanba, Eiji E; Kondo, Yoshiaki Y; Igarashi, Takashi T; Kanzaki, Susumu S
Publication Date: 2014-06

Variant appearance in text: AVPR2: R113W
PubMed Link: 25324589
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: AVPR2: R113W
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



Impact of GPCRs in clinical medicine: monogenic diseases, genetic variants and drug targets.

Biochimica Et Biophysica Acta
Insel, Paul A PA; Tang, Chih-Min CM; Hahntow, Ines I; Michel, Martin C MC
Publication Date: 2007-04

Variant appearance in text: AVPR2: Arg113Trp
PubMed Link: 17081496
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rescue of vasopressin V2 receptor mutants by chemical chaperones: specificity and mechanism.

Molecular Biology Of The Cell
Robben, J H JH; Sze, M M; Knoers, N V A M NV; Deen, P M T PM
Publication Date: 2006-01

Variant appearance in text: V2R: R113W
PubMed Link: 16267275
Variant Present in the following documents:
  • Main text
View BVdb publication page