Bibliome.ai browser hg19
Search
About
Stats
FAQ
MLH1 c.665A>G ;(p.N222S)
Variant ID: 3-37053578-A-G
NM_000249.3(
MLH1
):c.665A>G;(p.N222S)
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:
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: HNPCC2: N222S
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Micronuclei Formation upon Radioiodine Therapy for Well-Differentiated Thyroid Cancer: The Influence of DNA Repair Genes Variants.
Genes
S Santos, Luís L; M Gil, Octávia O; N Silva, Susana S; C Gomes, Bruno B; C Ferreira, Teresa T; Limbert, Edward E; Rueff, José J
Publication Date: 2020-09-17
Variant appearance in text: MLH1: 665A>G
PubMed Link:
32957448
Variant Present in the following documents:
Main text
genes-11-01083.pdf
View BVdb publication page