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GLA c.278A>G ;(p.D93G)
Variant ID: X-100658890-T-C
NM_000169.2(
GLA
):c.278A>G;(p.D93G)
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: D93G
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: D93G
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page
The CDC Hemophilia B mutation project mutation list: a new online resource.
Molecular Genetics & Genomic Medicine
Li, Tengguo T; Miller, Connie H CH; Payne, Amanda B AB; Craig Hooper, W W
Publication Date: 2013-11
Variant appearance in text: GLA: 278A>G; Asp93Gly
PubMed Link:
24498619
Variant Present in the following documents:
mgg30001-0238-SD1.xlsx, 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: D93G
PubMed Link:
24386359
Variant Present in the following documents:
Main text
pone.0084267.pdf
View BVdb publication page