HFE c.128G>A ;(p.G43D)

Variant ID: 6-26091120-G-A

NM_000410.3(HFE):c.128G>A;(p.G43D)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: HFE: 128G>A; G43D
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: HFE: G43D
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



HFE gene: Structure, function, mutations, and associated iron abnormalities.

Gene
Barton, James C JC; Edwards, Corwin Q CQ; Acton, Ronald T RT
Publication Date: 2015-12-15

Variant appearance in text: HFE: G43D
PubMed Link: 26456104
Variant Present in the following documents:
  • Main text
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: HFE: G43D
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



A late presentation of a fatal disease: juvenile hemochromatosis.

Case Reports In Medicine
Cherfane, Cynthia C; Lee, Pauline P; Guerin, Leana L; Brown, Kyle K
Publication Date: 2013

Variant appearance in text: HFE: Gly43Asp
PubMed Link: 24106505
Variant Present in the following documents:
  • CRIM.MEDICINE2013-875093.pdf
View BVdb publication page



Molecular diagnostic and pathogenesis of hereditary hemochromatosis.

International Journal Of Molecular Sciences
Santos, Paulo C J L PCJL; Krieger, Jose E JE; Pereira, Alexandre C AC
Publication Date: 2012

Variant appearance in text: HFE: Gly43Asp
PubMed Link: 22408404
Variant Present in the following documents:
  • ijms-13-01497.pdf
View BVdb publication page



Molecular diagnostic and pathogenesis of hereditary hemochromatosis.

International Journal Of Molecular Sciences
Santos, Paulo C J L PC; Krieger, Jose E JE; Pereira, Alexandre C AC
Publication Date: 2012

Variant appearance in text: HFE: Gly43Asp
PubMed Link: 22408404
Variant Present in the following documents:
  • ijms-13-01497.pdf
View BVdb publication page