HSD3B2 c.29C>A ;(p.A10E)

Variant ID: 1-119958071-C-A

NM_000198.3(HSD3B2):c.29C>A;(p.A10E)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: HSD3B2: 29C>A; Ala10Glu
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Co-Occurrence of a Pathogenic HSD3B2 Variant and a Duplication on 10q22.3-q23.2 Detected in Newborn Twins with Salt-Wasting Congenital Adrenal Hyperplasia.

Genes
Mellone, Simona S; Bertelli, Enrica E; Roviglione, Barbara B; Vurchio, Denise D; Ronzani, Sara S; Secco, Andrea A; Felici, Enrico E; Strozzi, Mariachiara Martina MM; Schena, Federico F; Giordano, Mara M
Publication Date: 2022-11-23

Variant appearance in text: HSD3B2: A10E
PubMed Link: 36553457
Variant Present in the following documents:
  • genes-13-02190.pdf
View BVdb publication page



Genotype, Mortality, Morbidity, and Outcomes of 3β-Hydroxysteroid Dehydrogenase Deficiency in Algeria.

Frontiers In Endocrinology
Ladjouze, Asmahane A; Donaldson, Malcolm M; Plotton, Ingrid I; Djenane, Nacima N; Mohammedi, Kahina K; Tardy-Guidollet, Véronique V; Mallet, Delphine D; Boulesnane, Kamélia K; Bouzerar, Zair Z; Morel, Yves Y; Roucher-Boulez, Florence F
Publication Date: 2022

Variant appearance in text: HSD3B2: A10E
PubMed Link: 35757411
Variant Present in the following documents:
  • Main text
  • fendo-13-867073.pdf
View BVdb publication page



46,XX DSD due to Androgen Excess in Monogenic Disorders of Steroidogenesis: Genetic, Biochemical, and Clinical Features.

International Journal Of Molecular Sciences
Baronio, Federico F; Ortolano, Rita R; Menabò, Soara S; Cassio, Alessandra A; Baldazzi, Lilia L; Di Natale, Valeria V; Tonti, Giacomo G; Vestrucci, Benedetta B; Balsamo, Antonio A
Publication Date: 2019-09-17

Variant appearance in text: HSD3B2: A10E
PubMed Link: 31533357
Variant Present in the following documents:
  • ijms-20-04605-s001.pdf
View BVdb publication page



Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics
Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F
Publication Date: 2019-07-25

Variant appearance in text: HSD3B2: A10E
PubMed Link: 31345222
Variant Present in the following documents:
  • 12920_2019_543_MOESM6_ESM.xlsx, sheet 3
View BVdb publication page



Clinical perspectives in congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase type 2 deficiency.

Endocrine
Al Alawi, Abdullah M AM; Nordenström, Anna A; Falhammar, Henrik H
Publication Date: 2019-03

Variant appearance in text: HSD3B2: Ala10Glu
PubMed Link: 30719691
Variant Present in the following documents:
  • Main text
  • 12020_2018_Article_1835.pdf
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: HSD3B2: A10E; rs28934880
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit.

Endocrine Connections
Donadille, Bruno B; Houang, Muriel M; Netchine, Irène I; Siffroi, Jean-Pierre JP; Christin-Maitre, Sophie S
Publication Date: 2018-03

Variant appearance in text: HSD3B2: A10E
PubMed Link: 29420188
Variant Present in the following documents:
  • Main text
  • ec-7-395.pdf
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: rs28934880
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Structural modeling and in silico analysis of non-synonymous single nucleotide polymorphisms of human 3β-hydroxysteroid dehydrogenase type 2.

Meta Gene
Goswami, Achintya Mohan AM
Publication Date: 2015-09

Variant appearance in text: HSD3B2: A10E; rs28934880
PubMed Link: 26288759
Variant Present in the following documents:
  • Main text
  • main.pdf
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: HSD3B2: A10E
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



Differential regulation of human 3β-hydroxysteroid dehydrogenase type 2 for steroid hormone biosynthesis by starvation and cyclic AMP stimulation: studies in the human adrenal NCI-H295R cell model.

Plos One
Udhane, Sameer S; Kempna, Petra P; Hofer, Gaby G; Mullis, Primus E PE; Flück, Christa E CE
Publication Date: 2013

Variant appearance in text: HSD3B2: A10E
PubMed Link: 23874725
Variant Present in the following documents:
  • pone.0068691.pdf
View BVdb publication page