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MSH6 c.1801C>G ;(p.L601V)
Variant ID: 2-48026923-C-G
NM_000179.2(
MSH6
):c.1801C>G;(p.L601V)
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:
MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.
Communications Biology
Ikegami, Masachika M; Kohsaka, Shinji S; Hirose, Takeshi T; Ueno, Toshihide T; Inoue, Satoshi S; Kanomata, Naoki N; Yamauchi, Hideko H; Mori, Taisuke T; Sekine, Shigeki S; Inamoto, Yoshihiro Y; Yatabe, Yasushi Y; Kobayashi, Hiroshi H; Tanaka, Sakae S; Mano, Hiroyuki H
Publication Date: 2021-12-15
Variant appearance in text: MSH6: 1801C>G; Leu601Val
PubMed Link:
34912045
Variant Present in the following documents:
42003_2021_2930_MOESM4_ESM.xlsx, sheet 5
View BVdb publication page
MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.
Communications Biology
Ikegami, Masachika M; Kohsaka, Shinji S; Hirose, Takeshi T; Ueno, Toshihide T; Inoue, Satoshi S; Kanomata, Naoki N; Yamauchi, Hideko H; Mori, Taisuke T; Sekine, Shigeki S; Inamoto, Yoshihiro Y; Yatabe, Yasushi Y; Kobayashi, Hiroshi H; Tanaka, Sakae S; Mano, Hiroyuki H
Publication Date: 2021-12-15
Variant appearance in text: MSH6: 1801C>G; Leu601Val
PubMed Link:
34912045
Variant Present in the following documents:
42003_2021_2930_MOESM4_ESM.xlsx, sheet 5
View BVdb publication page
A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.
Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12
Variant appearance in text: MSH6: 1801C>G; L601V
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 9
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page