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MSH6 c.3840_3846del ;(p.E1281Lfs*44)
Variant ID: 2-48033629-AGGAGACT-A
NM_000179.2(
MSH6
):c.3840_3846del;(p.E1281Lfs*44)
This variant was identified in 7 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
InSiGHT 2022 Abstract Publishing and Best Abstract Awards.
Familial Cancer
Publication Date: 2022-10
Variant appearance in text: MSH6: 3840_3846del; E1281Lfs*44
PubMed Link:
36260238
Variant Present in the following documents:
10689_2022_Article_312.pdf
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: 3840_3846delGGAGACT; Glu1281Leufs; rs63751319
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page
Unexpected expression of mismatch repair protein is more commonly seen with pathogenic missense than with other mutations in Lynch syndrome.
Human Pathology
Chen, Wei W; Hampel, Heather H; Pearlman, Rachel R; Jones, Dan D; Zhao, Weiqiang W; Alsomali, Mohammed M; Knight, Deborah D; Frankel, Wendy L WL
Publication Date: 2020-09
Variant appearance in text: MSH6: 3840_3846del; E1281Lfs*44
PubMed Link:
32652087
Variant Present in the following documents:
Main text
View BVdb publication page
Toward automation of germline variant curation in clinical cancer genetics.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J
Publication Date: 2019-09
Variant appearance in text: MSH6: 3840_3846delGGAGACT
PubMed Link:
30787465
Variant Present in the following documents:
NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
View BVdb publication page
Modified capture-recapture estimates of the number of families with Lynch syndrome in Central Ohio.
Familial Cancer
Ranola, John Michael O JMO; Pearlman, Rachel R; Hampel, Heather H; Shirts, Brian H BH
Publication Date: 2019-01
Variant appearance in text: MSH6: 3840_3846del
PubMed Link:
30019097
Variant Present in the following documents:
Main text
View BVdb publication page
Sources of discordance among germ-line variant classifications in ClinVar.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10
Variant appearance in text: MSH6: 3840_3846delGGAGACT; Glu1281Leufs
PubMed Link:
28569743
Variant Present in the following documents:
gim201760x7.xlsx, sheet 2
View BVdb publication page
Germline MSH6 mutations are more prevalent in endometrial cancer patient cohorts than hereditary non polyposis colorectal cancer cohorts.
The Ulster Medical Journal
Devlin, Lisa A LA; Graham, Colin A CA; Price, John H JH; Morrison, Patrick J PJ
Publication Date: 2008-01
Variant appearance in text: MSH6: 3840_3846delGGAGACT
PubMed Link:
18269114
Variant Present in the following documents:
Main text
umj7701-025.pdf
View BVdb publication page