NF1 c.7732G>T ;(p.E2578*)

Variant ID: 17-29683594-G-T

NM_001042492.2(NF1):c.7732G>T;(p.E2578*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes.

Genome Medicine
Wang, Meng M; Banik, Ishani I; Shain, A Hunter AH; Yeh, Iwei I; Bastian, Boris C BC
Publication Date: 2022-06-16

Variant appearance in text: NF1: E2578X
PubMed Link: 35706047
Variant Present in the following documents:
  • 13073_2022_1068_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Systematic review and meta-analysis of genomic alterations in acral melanoma.

Pigment Cell & Melanoma Research
Broit, Natasa N; Johansson, Peter A PA; Rodgers, Chloe B CB; Walpole, Sebastian T ST; Hayward, Nicholas K NK; Pritchard, Antonia L AL
Publication Date: 2022-05

Variant appearance in text: NF1: E2578*
PubMed Link: 35229492
Variant Present in the following documents:
  • PCMR-35-369-s003.xlsx, sheet 8
  • PCMR-35-369-s003.xlsx, sheet 12
View BVdb publication page



Integrated genomic analyses reveal frequent TERT aberrations in acral melanoma.

Genome Research
Liang, Winnie S WS; Hendricks, William W; Kiefer, Jeffrey J; Schmidt, Jessica J; Sekar, Shobana S; Carpten, John J; Craig, David W DW; Adkins, Jonathan J; Cuyugan, Lori L; Manojlovic, Zarko Z; Halperin, Rebecca F RF; Helland, Adrienne A; Nasser, Sara S; Legendre, Christophe C; Hurley, Laurence H LH; Sivaprakasam, Karthigayini K; Johnson, Douglas B DB; Crandall, Holly H; Busam, Klaus J KJ; Zismann, Victoria V; Deluca, Valerie V; Lee, Jeeyun J; Sekulic, Aleksandar A; Ariyan, Charlotte E CE; Sosman, Jeffrey J; Trent, Jeffrey J
Publication Date: 2017-04

Variant appearance in text: NF1: E2578*
PubMed Link: 28373299
Variant Present in the following documents:
  • Main text
View BVdb publication page