SI c.3790G>A ;(p.E1264K)

Variant ID: 3-164733838-C-T

NM_001041.3(SI):c.3790G>A;(p.E1264K)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Last Nucleotide Substitutions of COL4A5 Exons Cause Aberrant Splicing.

Kidney International Reports
Aoto, Yuya Y; Horinouchi, Tomoko T; Yamamura, Tomohiko T; Kondo, Atsushi A; Nagai, Sadayuki S; Ishiko, Shinya S; Okada, Eri E; Rossanti, Rini R; Sakakibara, Nana N; Nagano, China C; Awano, Hiroyuki H; Nagase, Hiroaki H; Shima, Yuko Y; Nakanishi, Koichi K; Matsuo, Masafumi M; Iijima, Kazumoto K; Nozu, Kandai K
Publication Date: 2022-01

Variant appearance in text: SI: 3790G>A
PubMed Link: 35005319
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



The Genomic Landscape of Actinic Keratosis.

The Journal Of Investigative Dermatology
Thomson, Jason J; Bewicke-Copley, Findlay F; Anene, Chinedu Anthony CA; Gulati, Abha A; Nagano, Ai A; Purdie, Karin K; Inman, Gareth J GJ; Proby, Charlotte M CM; Leigh, Irene M IM; Harwood, Catherine A CA; Wang, Jun J
Publication Date: 2021-07

Variant appearance in text: SI: E1264K
PubMed Link: 33482222
Variant Present in the following documents:
  • mmc1.xlsx, sheet 4
View BVdb publication page



Angiosarcoma heterogeneity and potential therapeutic vulnerability to immune checkpoint blockade: insights from genomic sequencing.

Genome Medicine
Boichard, Amélie A; Wagner, Michael J MJ; Kurzrock, Razelle R
Publication Date: 2020-07-09

Variant appearance in text: SI: 3790G>A; Glu1264Lys
PubMed Link: 32646514
Variant Present in the following documents:
  • 13073_2020_753_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications
Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C
Publication Date: 2020-05-05

Variant appearance in text: SI: 3790G>A; E1264K
PubMed Link: 32371905
Variant Present in the following documents:
  • 41467_2020_16067_MOESM23_ESM.xlsx, sheet 1
View BVdb publication page