Bibliome.ai browser hg19
Search
About
Stats
FAQ
FH c.988A>G ;(p.T330A)
Variant ID: 1-241667462-T-C
NM_000143.3(
FH
):c.988A>G;(p.T330A)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: 988A>G; Thr330Ala; rs776313200
PubMed Link:
32612247
Variant Present in the following documents:
41379_2020_596_MOESM2_ESM.xlsx, sheet 3
41379_2020_596_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page
The emerging role and targetability of the TCA cycle in cancer metabolism.
Protein & Cell
Anderson, Nicole M NM; Mucka, Patrick P; Kern, Joseph G JG; Feng, Hui H
Publication Date: 2018-02
Variant appearance in text: FH: 988A>G
PubMed Link:
28748451
Variant Present in the following documents:
Main text
13238_2017_Article_451.pdf
View BVdb publication page
Garlic accelerates red blood cell turnover and splenic erythropoietic gene expression in mice: evidence for erythropoietin-independent erythropoiesis.
Plos One
Akgül, Bünyamin B; Lin, Kai-Wei KW; Ou Yang, Hui-Mei HM; Chen, Yen-Hui YH; Lu, Tzu-Huan TH; Chen, Chien-Hsiun CH; Kikuchi, Tateki T; Chen, Yuan-Tsong YT; Tu, Chen-Pei D CP
Publication Date: 2010-12-29
Variant appearance in text: FH: T330A
PubMed Link:
21206920
Variant Present in the following documents:
pone.0015358.pdf
View BVdb publication page