EGR1 c.595_596delinsTT ;(p.S199F)

Variant ID: 5-137802733-AG-TT

NM_001964.2(EGR1):c.595_596delinsTT;(p.S199F)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Rapid Spread and Genetic Characterisation of a Recently Emerged Recombinant Lumpy Skin Disease Virus in Thailand.

Veterinary Sciences
Suwankitwat, Nutthakarn N; Songkasupa, Tapanut T; Boonpornprasert, Prakit P; Sripipattanakul, Phurida P; Theerawatanasirikul, Sirin S; Deemagarn, Taweewat T; Suwannaboon, Minta M; Arjkumpa, Orapun O; Buamithup, Noppawan N; Hongsawat, Akkarapol A; Jindajang, Sirima S; Nipaeng, Nawakarn N; Aunpomma, Dilok D; Molee, Lamul L; Puangjinda, Kanokwan K; Lohlamoh, Walaiporn W; Nuansrichay, Bandit B; Narawongsanont, Rawint R; Arunvipas, Pipat P; Lekcharoensuk, Porntippa P
Publication Date: 2022-09-30

Variant appearance in text: 225: S199F
PubMed Link: 36288155
Variant Present in the following documents:
  • vetsci-09-00542.pdf
View BVdb publication page



DNA demethylation is associated with malignant progression of lower-grade gliomas.

Scientific Reports
Nomura, Masashi M; Saito, Kuniaki K; Aihara, Koki K; Nagae, Genta G; Yamamoto, Shogo S; Tatsuno, Kenji K; Ueda, Hiroki H; Fukuda, Shiro S; Umeda, Takayoshi T; Tanaka, Shota S; Takayanagi, Shunsaku S; Otani, Ryohei R; Nejo, Takahide T; Hana, Taijun T; Takahashi, Satoshi S; Kitagawa, Yosuke Y; Omata, Mayu M; Higuchi, Fumi F; Nakamura, Taishi T; Muragaki, Yoshihiro Y; Narita, Yoshitaka Y; Nagane, Motoo M; Nishikawa, Ryo R; Ueki, Keisuke K; Saito, Nobuhito N; Aburatani, Hiroyuki H; Mukasa, Akitake A
Publication Date: 2019-02-13

Variant appearance in text: 225: S199F
PubMed Link: 30760837
Variant Present in the following documents:
  • 41598_2019_38510_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: 225: S199F
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
View BVdb publication page



A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget
Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2014-05-30

Variant appearance in text: 225: S199F
PubMed Link: 24913145
Variant Present in the following documents:
  • oncotarget-05-2912-s003.xlsx, sheet 1
View BVdb publication page



Audiologic phenotype and progression in GJB2 (Connexin 26) hearing loss.

Archives Of Otolaryngology--Head & Neck Surgery
Kenna, Margaret A MA; Feldman, Henry A HA; Neault, Marilyn W MW; Frangulov, Anna A; Wu, Bai-Lin BL; Fligor, Brian B; Rehm, Heidi L HL
Publication Date: 2010-01

Variant appearance in text: 225: S199F
PubMed Link: 20083784
Variant Present in the following documents:
  • Main text
View BVdb publication page