NFKBIA c.95G>T ;(p.S32I)

Variant ID: 14-35873756-C-A

NM_020529.2(NFKBIA):c.95G>T;(p.S32I)

This variant was identified in 18 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: NFKBIA: 95G>T; Ser32Ile
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



A Novel De Novo NFKBIA Missense Mutation Associated to Ectodermal Dysplasia with Dysgammaglobulinemia.

Genes
Chear, Chai Teng CT; El Farran, Bader Abdul Kader BAK; Sham, Marina M; Ramalingam, Kavetha K; Noh, Lokman Mohd LM; Ismail, Intan Hakimah IH; Chiow, Mei Yee MY; Baharin, Mohd Farid MF; Ripen, Adiratna Mat AM; Mohamad, Saharuddin Bin SB
Publication Date: 2022-10-19

Variant appearance in text: NFKBIA: Ser32Ile
PubMed Link: 36292785
Variant Present in the following documents:
  • Main text
  • genes-13-01900.pdf
View BVdb publication page



A heterozygous N-terminal truncation mutation of NFKBIA results in an impaired NF-κB dependent inflammatory response.

Genes & Diseases
Wen, Wen W; Wang, Li L; Deng, Mengyue M; Li, Yue Y; Tang, Xuemei X; Mao, Huawei H; Zhao, Xiaodong X
Publication Date: 2022-01

Variant appearance in text: NFKBIA: S32I
PubMed Link: 35005117
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Publication Date: 2021

Variant appearance in text: NFKBIA: S32I
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Targeting NF-κB pathway for the therapy of diseases: mechanism and clinical study.

Signal Transduction And Targeted Therapy
Yu, Hui H; Lin, Liangbin L; Zhang, Zhiqiang Z; Zhang, Huiyuan H; Hu, Hongbo H
Publication Date: 2020-09-21

Variant appearance in text: NFKBIA: 95G>T; Ser32Ile
PubMed Link: 32958760
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.

Frontiers In Immunology
Suratannon, Narissara N; van Wijck, Rogier T A RTA; Broer, Linda L; Xue, Laixi L; van Meurs, Joyce B J JBJ; Barendregt, Barbara H BH; van der Burg, Mirjam M; Dik, Willem A WA; Chatchatee, Pantipa P; Langerak, Anton W AW; Swagemakers, Sigrid M A SMA; Goos, Jacqueline A C JAC; Mathijssen, Irene M J IMJ; Dalm, Virgil A S H VASH; Suphapeetiporn, Kanya K; Heezen, Kim C KC; Drabwell, Jose J; Uitterlinden, André G AG; van der Spek, Peter J PJ; van Hagen, P Martin PM; ,
Publication Date: 2020

Variant appearance in text: NFKBIA: 95G>T
PubMed Link: 32373116
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: NFKBIA: S32I
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency.

Journal Of Clinical Immunology
Boisson, Bertrand B; Puel, Anne A; Picard, Capucine C; Casanova, Jean-Laurent JL
Publication Date: 2017-07

Variant appearance in text: NFKBIA: S32I
PubMed Link: 28597146
Variant Present in the following documents:
  • Main text
View BVdb publication page



Disseminated Mycobacterium malmoense and Salmonella Infections Associated with a Novel Variant in NFKBIA.

Journal Of Clinical Immunology
Staples, Emily E; Morillo-Gutierrez, Beatriz B; Davies, Jessica J; Petersheim, Daniel D; Massaad, Michel M; Slatter, Mary M; Dimou, Dimitra D; Doffinger, Rainer R; Hackett, Scott S; Kumararatne, Dinkantha D; Hadfield, James J; Eldridge, Matthew D MD; Geha, Raif S RS; Abinun, Mario M; Thaventhiran, James E D JED
Publication Date: 2017-07

Variant appearance in text: NFKBIA: S32I
PubMed Link: 28417298
Variant Present in the following documents:
  • Main text
  • 10875_2017_Article_390.pdf
View BVdb publication page



30 Years of NF-κB: A Blossoming of Relevance to Human Pathobiology.

Cell
Zhang, Qian Q; Lenardo, Michael J MJ; Baltimore, David D
Publication Date: 2017-01-12

Variant appearance in text: NFKBIA: S32I
PubMed Link: 28086098
Variant Present in the following documents:
  • Main text
View BVdb publication page



Heterozygous Mutation in IκBNS Leads to Reduced Levels of Natural IgM Antibodies and Impaired Responses to T-Independent Type 2 Antigens.

Frontiers In Immunology
Pedersen, Gabriel K GK; Ádori, Monika M; Stark, Julian M JM; Khoenkhoen, Sharesta S; Arnold, Carrie C; Beutler, Bruce B; Karlsson Hedestam, Gunilla B GB
Publication Date: 2016

Variant appearance in text: IkappaBalpha: S32I
PubMed Link: 26973645
Variant Present in the following documents:
  • fimmu-07-00065.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: rs28933100
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
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: NFKBIA: S32I
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Rare mendelian primary immunodeficiency diseases associated with impaired NF-κB signaling.

Genes And Immunity
Paciolla, M M; Pescatore, A A; Conte, M I MI; Esposito, E E; Incoronato, M M; Lioi, M B MB; Fusco, F F; Ursini, M V MV
Publication Date: 2015-06

Variant appearance in text: NFKBIA: Ser32Ile
PubMed Link: 25764117
Variant Present in the following documents:
  • Main text
  • emss-61790.pdf
View BVdb publication page



Defective lymphoid organogenesis underlies the immune deficiency caused by a heterozygous S32I mutation in IκBα.

The Journal Of Experimental Medicine
Mooster, Jana L JL; Le Bras, Severine S; Massaad, Michel J MJ; Jabara, Haifa H; Yoon, Juhan J; Galand, Claire C; Heesters, Balthasar A BA; Burton, Oliver T OT; Mattoo, Hamid H; Manis, John J; Geha, Raif S RS
Publication Date: 2015-02-09

Variant appearance in text: NFKBIA: S32I
PubMed Link: 25601653
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research
Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH
Publication Date: 2009-03

Variant appearance in text: NFKBIA: S32I
PubMed Link: 19139070
Variant Present in the following documents:
  • gkn1008_nar-01723-s-2008-File006.xls, sheet 1
  • gkn1008_nar-01723-s-2008-File009.xls, sheet 1
  • gkn1008.pdf
View BVdb publication page



Essential role of nuclear factor-kappaB for NADPH oxidase activity in normal and anhidrotic ectodermal dysplasia leukocytes.

Blood
Luengo-Blanco, Marcos M; Prando, Carolina C; Bustamante, Jacinta J; Aragão-Filho, Walmir Cutrim WC; Pereira, Paulo Vitor Soeiro PV; Rehder, Jussara J; Padden, Carolyn C; Casanova, Jean-Laurent JL; Newburger, Peter E PE; Condino-Neto, Antonio A
Publication Date: 2008-08-15

Variant appearance in text: IKBA: S32I
PubMed Link: 18523147
Variant Present in the following documents:
  • Main text
View BVdb publication page



A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency.

The Journal Of Clinical Investigation
Courtois, Gilles G; Smahi, Asma A; Reichenbach, Janine J; Döffinger, Rainer R; Cancrini, Caterina C; Bonnet, Marion M; Puel, Anne A; Chable-Bessia, Christine C; Yamaoka, Shoji S; Feinberg, Jacqueline J; Dupuis-Girod, Sophie S; Bodemer, Christine C; Livadiotti, Susanna S; Novelli, Francesco F; Rossi, Paolo P; Fischer, Alain A; Israël, Alain A; Munnich, Arnold A; Le Deist, Françoise F; Casanova, Jean-Laurent JL
Publication Date: 2003-10

Variant appearance in text: IKBA: Ser32Ile
PubMed Link: 14523047
Variant Present in the following documents:
  • Main text
View BVdb publication page