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FH c.658G>T ;(p.A220S)
Variant ID: 1-241671983-C-A
NM_000143.3(
FH
):c.658G>T;(p.A220S)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.
Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01
Variant appearance in text: FH: A220S
PubMed Link:
34963661
Variant Present in the following documents:
supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page
Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.
Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Popp, Bernt B; Erber, Ramona R; Kraus, Cornelia C; Vasileiou, Georgia G; Hoyer, Juliane J; Burghaus, Stefanie S; Hartmann, Arndt A; Beckmann, Matthias W MW; Reis, André A; Agaimy, Abbas A
Publication Date: 2020-11
Variant appearance in text: FH: 658G>T; Ala220Ser
PubMed Link:
32612247
Variant Present in the following documents:
41379_2020_596_MOESM2_ESM.xlsx, sheet 8
41379_2020_596_MOESM2_ESM.xlsx, sheet 6
41379_2020_596_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page
Genetic Variations Associated with Drug Resistance Markers in Asymptomatic Plasmodium falciparum Infections in Myanmar.
Genes
Zhao, Yan Y; Liu, Ziling Z; Soe, Myat Thu MT; Wang, Lin L; Soe, Than Naing TN; Wei, Huanping H; Than, Aye A; Aung, Pyae Linn PL; Li, Yuling Y; Zhang, Xuexing X; Hu, Yubing Y; Wei, Haichao H; Zhang, Yangminghui Y; Burgess, Jessica J; Siddiqui, Faiza A FA; Menezes, Lynette L; Wang, Qinghui Q; Kyaw, Myat Phone MP; Cao, Yaming Y; Cui, Liwang L
Publication Date: 2019-09-09
Variant appearance in text: FH: A220S
PubMed Link:
31505774
Variant Present in the following documents:
Main text
View BVdb publication page
Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.
Plos Genetics
Yehia, Lamis L; Ni, Ying Y; Sesock, Kaitlin K; Niazi, Farshad F; Fletcher, Benjamin B; Chen, Hannah Jin Lian HJL; LaFramboise, Thomas T; Eng, Charis C
Publication Date: 2018-04
Variant appearance in text: FH: A220S
PubMed Link:
29684080
Variant Present in the following documents:
pgen.1007352.s010.xlsx, sheet 1
View BVdb publication page