GC c.626dup ;(p.L209Ffs*10)

Variant ID: 4-72629199-T-TA

NM_000583.3(GC):c.626dup;(p.L209Ffs*10)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Haplotype-resolved de novo assembly of the Vero cell line genome.

Npj Vaccines
Sène, Marie-Angélique MA; Kiesslich, Sascha S; Djambazian, Haig H; Ragoussis, Jiannis J; Xia, Yu Y; Kamen, Amine A AA
Publication Date: 2021-08-20

Variant appearance in text: GC: 626dupT; Leu209fs
PubMed Link: 34417462
Variant Present in the following documents:
  • 41541_2021_358_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Rapid screening of MMACHC gene mutations by high-resolution melting curve analysis.

Molecular Genetics & Genomic Medicine
Wang, Chao C; Liu, Yang Y; Cai, Fengying F; Zhang, Xinjie X; Xu, Xiaowei X; Li, Yani Y; Zou, Qianqian Q; Zheng, Jie J; Zhang, Yuqin Y; Guo, Wei W; Cai, Chunquan C; Shu, Jianbo J
Publication Date: 2020-06

Variant appearance in text: GC: 626dupT
PubMed Link: 32198913
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1221.pdf
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: GC: 624_625insT
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
View BVdb publication page