GSS c.373C>T ;(p.R125C)

Variant ID: 20-33530409-G-A

NM_000178.2(GSS):c.373C>T;(p.R125C)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: GSS: 373C>T; Arg125Cys; rs28936396
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications
Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C
Publication Date: 2020-05-05

Variant appearance in text: GSS: 275+3347C>T; R125C
PubMed Link: 32371905
Variant Present in the following documents:
  • 41467_2020_16067_MOESM12_ESM.xlsx, sheet 9
  • 41467_2020_16067_MOESM23_ESM.xlsx, sheet 1
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs28936396
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Tarailo-Graovac, Maja M; Zhu, Jing Yun Alice JYA; Matthews, Allison A; van Karnebeek, Clara D M CDM; Wasserman, Wyeth W WW
Publication Date: 2017-12

Variant appearance in text: GSS: R125C
PubMed Link: 28471432
Variant Present in the following documents:
  • gim201750x2.xlsx, sheet 3
View BVdb publication page



A framework for application of metabolic modeling in yeast to predict the effects of nsSNV in human orthologs.

Biology Direct
Dingerdissen, Hayley H; Weaver, Daniel S DS; Karp, Peter D PD; Pan, Yang Y; Simonyan, Vahan V; Mazumder, Raja R
Publication Date: 2014-06-03

Variant appearance in text: rs28936396
PubMed Link: 24894379
Variant Present in the following documents:
  • Main text
  • 1745-6150-9-9.pdf
View BVdb publication page



Candidate single nucleotide polymorphism markers for arsenic responsiveness of protein targets.

Bioinformatics And Biology Insights
Isokpehi, Raphael D RD; Cohly, Hari H P HH; Anyanwu, Matthew N MN; Rajnarayanan, Rajendram V RV; Tchounwou, Paul B PB; Udensi, Udensi K UK; Graham-Evans, Barbara E BE
Publication Date: 2010-10-11

Variant appearance in text: GSS: R125C
PubMed Link: 20981267
Variant Present in the following documents:
  • BBI-4-supplementary.xls, sheet 4
View BVdb publication page