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NF1 c.1876C>A ;(p.L626I)
Variant ID: 17-29552143-C-A
NM_001042492.2(
NF1
):c.1876C>A;(p.L626I)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Molecular underpinnings of exceptional response in primary malignant melanoma of the esophagus to anti-PD-1 monotherapy.
Journal For Immunotherapy Of Cancer
Dai, Jie J; Bai, Xue X; Gao, Xuan X; Tang, Lirui L; Chen, Yu Y; Sun, Linzi L; Wei, Xiaoting X; Li, Caili C; Qi, Zhonghui Z; Kong, Yan Y; Cui, Chuanliang C; Chi, Zhihong Z; Sheng, Xinan X; Xu, Zelong Z; Lian, Bin B; Li, Siming S; Yan, Xieqiao X; Tang, Bixia B; Zhou, Li L; Wang, Xuan X; Xia, Xuefeng X; Guo, Jun J; Mao, Lili L; Si, Lu L
Publication Date: 2023-01
Variant appearance in text: NF1: Leu626Ile
PubMed Link:
36593066
Variant Present in the following documents:
jitc-2022-005937supp007.xls, sheet 1
View BVdb publication page
Primary malignant melanoma of esophagus shared similar genetic characters with both cutaneous and oral mucosal melanoma.
Journal Of Thoracic Disease
Li, Jingjing J; Yan, Shi S; Wu, Nan N
Publication Date: 2018-06
Variant appearance in text: NF1: L626I
PubMed Link:
30023129
Variant Present in the following documents:
Main text
View BVdb publication page
Unraveling the etiology of primary malignant melanoma of the esophagus.
Journal Of Thoracic Disease
Krauthammer, Michael M
Publication Date: 2018-04
Variant appearance in text: NF1: L626I
PubMed Link:
29850187
Variant Present in the following documents:
Main text
View BVdb publication page