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NF1 c.3772T>A ;(p.W1258R)
Variant ID: 17-29562692-T-A
NM_001042492.2(
NF1
):c.3772T>A;(p.W1258R)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Accurate diagnosis of mismatch repair deficiency in colorectal cancer using high-quality DNA samples from cultured stem cells.
Oncotarget
Yamaura, Tadayoshi T; Miyoshi, Hiroyuki H; Maekawa, Hisatsugu H; Morimoto, Tomonori T; Yamamoto, Takehito T; Kakizaki, Fumihiko F; Higasa, Koichiro K; Kawada, Kenji K; Matsuda, Fumihiko F; Sakai, Yoshiharu Y; Taketo, M Mark MM
Publication Date: 2018-12-25
Variant appearance in text: NF1: W1258R
PubMed Link:
30680068
Variant Present in the following documents:
oncotarget-09-37534-s002.xlsx, sheet 1
View BVdb publication page
Ras-Specific GTPase-Activating Proteins-Structures, Mechanisms, and Interactions.
Cold Spring Harbor Perspectives In Medicine
Scheffzek, Klaus K; Shivalingaiah, Giridhar G
Publication Date: 2019-03-01
Variant appearance in text: NF1: W1258R
PubMed Link:
30104198
Variant Present in the following documents:
Main text
View BVdb publication page