Bibliome.ai browser hg19
Search
About
Stats
FAQ
GLA c.602C>T ;(p.S201F)
Variant ID: X-100655691-G-A
NM_000169.2(
GLA
):c.602C>T;(p.S201F)
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:
Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.
Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09
Variant appearance in text: GLA: S201F
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
GESPA: classifying nsSNPs to predict disease association.
Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25
Variant appearance in text: GLA: S201F
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page
Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.
Plos One
Saito, Seiji S; Ohno, Kazuki K; Sakuraba, Hitoshi H
Publication Date: 2013
Variant appearance in text: GLA: S201F
PubMed Link:
24386359
Variant Present in the following documents:
Main text
pone.0084267.pdf
View BVdb publication page
Pharmacological chaperone therapy for Fabry disease.
Proceedings Of The Japan Academy. Series B, Physical And Biological Sciences
Ishii, Satoshi S
Publication Date: 2012
Variant appearance in text: GLA: S201F
PubMed Link:
22241068
Variant Present in the following documents:
pjab-88-018.pdf
View BVdb publication page