NIPAL4 c.341C>A ;(p.A114D)

Variant ID: 5-156895736-C-A

NM_001099287.1(NIPAL4):c.341C>A;(p.A114D)

This variant was identified in 24 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: NIPAL4: 527C>A; Ala176Asp
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



STS pathogenic variants in a Dutch patient cohort clinically suspected for X-linked ichthyosis show genetic heterogeneity.

The British Journal Of Dermatology
Nagtzaam, Ivo F IF; van Leersum, Frank S FS; Kouwenberg, Laurie C M LCM; Blok, Marinus J MJ; Vreeburg, Maaike M; Steijlen, Peter M PM; Gostyński, Antoni A; van Geel, Michel M
Publication Date: 2022-11

Variant appearance in text: NIPAL4: Ala176Asp
PubMed Link: 35822528
Variant Present in the following documents:
  • Main text
  • BJD-187-820.pdf
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Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell Stem Cell
Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K
Publication Date: 2022-03-03

Variant appearance in text: NIPAL4: 527C>A; Ala176Asp; rs199422217
PubMed Link: 35176222
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
  • mmc5.xlsx, sheet 1
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: NIPAL4: A176D; rs199422217
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis-Like Autosomal Recessive Congenital Ichthyosis.

Plos One
Charfeddine, Cherine C; Laroussi, Nadia N; Mkaouar, Rahma R; Jouini, Raja R; Khayat, Olfa O; Redissi, Aladin A; Mosbah, Amor A; Dallali, Hamza H; Chedly Debbiche, Achraf A; Zaouak, Anissa A; Fenniche, Sami S; Abdelhak, Sonia S; Hammami-Ghorbel, Houda H
Publication Date: 2021

Variant appearance in text: NIPAL4: 527C>A; Ala176Asp
PubMed Link: 34669720
Variant Present in the following documents:
  • Main text
  • pone.0258777.pdf
View BVdb publication page



Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Genome Medicine
Wang, Zishan Z; Fan, Xiao X; Shen, Yufeng Y; Pagadala, Meghana S MS; Signer, Rebecca R; Cygan, Kamil J KJ; Fairbrother, William G WG; Carter, Hannah H; Chung, Wendy K WK; Huang, Kuan-Lin KL
Publication Date: 2021-09-09

Variant appearance in text: NIPAL4: A176D
PubMed Link: 34503567
Variant Present in the following documents:
  • 13073_2021_964_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling.

European Journal Of Human Genetics : Ejhg
Narayanan, Dhanya Lakshmi DL; Udyawar, Divya D; Kaur, Parneet P; Sharma, Suvasini S; Suresh, Narayanaswamy N; Nampoothiri, Sheela S; do Rosario, Michelle C MC; Somashekar, Puneeth H PH; Rao, Lakshmi Priya LP; Kausthubham, Neethukrishna N; Majethia, Purvi P; Pande, Shruti S; Ramesh Bhat, Y Y; Shrikiran, Aroor A; Bielas, Stephanie S; Girisha, Katta Mohan KM; Shukla, Anju A
Publication Date: 2021-12

Variant appearance in text: NIPAL4: Ala176Asp
PubMed Link: 34276053
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling.

European Journal Of Human Genetics : Ejhg
Narayanan, Dhanya Lakshmi DL; Udyawar, Divya D; Kaur, Parneet P; Sharma, Suvasini S; Suresh, Narayanaswamy N; Nampoothiri, Sheela S; do Rosario, Michelle C MC; Somashekar, Puneeth H PH; Rao, Lakshmi Priya LP; Kausthubham, Neethukrishna N; Majethia, Purvi P; Pande, Shruti S; Ramesh Bhat, Y Y; Shrikiran, Aroor A; Bielas, Stephanie S; Girisha, Katta Mohan KM; Shukla, Anju A
Publication Date: 2021-12

Variant appearance in text: NIPAL4: Ala176Asp
PubMed Link: 34276053
Variant Present in the following documents:
  • Main text
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: NIPAL4: 527C>A; A176D
PubMed Link: 32371905
Variant Present in the following documents:
  • 41467_2020_16067_MOESM12_ESM.xlsx, sheet 9
View BVdb publication page



Genetics of Inherited Ichthyoses and Related Diseases.

Acta Dermato-Venereologica
Fischer, Judith J; Bourrat, Emmanuelle E
Publication Date: 2020-03-25

Variant appearance in text: NIPAL4: Ala176Asp
PubMed Link: 32147747
Variant Present in the following documents:
  • Main text
  • ActaDV-100-7-5692.pdf
View BVdb publication page



Identification of a novel missense mutation in NIPAL4 gene: First 3D model construction predicted its pathogenicity.

Molecular Genetics & Genomic Medicine
Laadhar, Sahar S; Ben Mansour, Riadh R; Marrakchi, Slaheddine S; Miled, Nabil N; Ennouri, Mariem M; Fischer, Judith J; Kaddechi, Mohamed Ali MA; Turki, Hamida H; Fakhfakh, Faiza F
Publication Date: 2020-03

Variant appearance in text: NIPAL4: A176D
PubMed Link: 31876100
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1104.pdf
View BVdb publication page



Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10

Variant appearance in text: NIPAL4: 527C>A; Ala176Asp; rs199422217
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page



Cushing disease in a patient with nonbullous congenital ichthyosiform erythroderma: lessons in avoiding glucocorticoids in ichthyosis.

Journal Of Pediatric Endocrinology & Metabolism : Jpem
Hartley, Iris R IR; Costa Beber Nunes, Julia J; Lodish, Maya M; Stratakis, Constantine A CA
Publication Date: 2019-08-27

Variant appearance in text: NIPAL4: A176D
PubMed Link: 31256066
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inherited ichthyoses: molecular causes of the disease in Czech patients.

Orphanet Journal Of Rare Diseases
Borská, Romana R; Pinková, Blanka B; Réblová, Kamila K; Bučková, Hana H; Kopečková, Lenka L; Němečková, Jitka J; Puchmajerová, Alena A; Malíková, Marcela M; Hermanová, Markéta M; Fajkusová, Lenka L
Publication Date: 2019-05-02

Variant appearance in text: NIPAL4: 527C>A; Ala176Asp
PubMed Link: 31046801
Variant Present in the following documents:
  • Main text
  • 13023_2019_Article_1076.pdf
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: NIPAL4: 527C>A; Ala176Asp
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan.

Molecular Genetics & Genomic Medicine
Lima Cunha, Dulce D; Alakloby, Omar Mohammed OM; Gruber, Robert R; Kakar, Naseebullah N; Ahmad, Jamil J; Alawbathani, Salem S; Plank, Roswitha R; Eckl, Katja K; Krabichler, Birgit B; Altmüller, Janine J; Nürnberg, Peter P; Zschocke, Johannes J; Borck, Guntram G; Schmuth, Matthias M; Alabdulkareem, Adnan S AS; Abdulaziz Alnutaifi, Kholood K; Hennies, Hans Christian HC
Publication Date: 2019-03

Variant appearance in text: NIPAL4: 527C>A; Ala176Asp
PubMed Link: 30600594
Variant Present in the following documents:
  • Main text
  • MGG3-7-na.pdf
View BVdb publication page



Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)-Deficient Canines.

The American Journal Of Pathology
Mauldin, Elizabeth A EA; Crumrine, Debra D; Casal, Margret L ML; Jeong, Sekyoo S; Opálka, Lukáš L; Vavrova, Katerina K; Uchida, Yoshikazu Y; Park, Kyungho K; Craiglow, Brittany B; Choate, Keith A KA; Shin, Kyong-Oh KO; Lee, Yong-Moon YM; Grove, Gary L GL; Wakefield, Joan S JS; Khnykin, Denis D; Elias, Peter M PM
Publication Date: 2018-06

Variant appearance in text: NIPAL4: 527C>A; Ala176Asp
PubMed Link: 29548991
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21

Variant appearance in text: rs199422217
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s003.xlsx, sheet 1
View BVdb publication page



A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs.

Plos One
Casal, Margret L ML; Wang, Ping P; Mauldin, Elizabeth A EA; Lin, Gloria G; Henthorn, Paula S PS
Publication Date: 2017

Variant appearance in text: NIPAL4: Ala176Asp
PubMed Link: 28122049
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry
Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE
Publication Date: 2016-12

Variant appearance in text: NIPAL4: A176D; rs199422217
PubMed Link: 27001614
Variant Present in the following documents:
  • NIHMS753666-supplement-2.xlsx, sheet 5
View BVdb publication page



Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.

Orphanet Journal Of Rare Diseases
Diociaiuti, Andrea A; El Hachem, May M; Pisaneschi, Elisa E; Giancristoforo, Simona S; Genovese, Silvia S; Sirleto, Pietro P; Boldrini, Renata R; Angioni, Adriano A
Publication Date: 2016-01-13

Variant appearance in text: NIPAL4: A176D
PubMed Link: 26762237
Variant Present in the following documents:
  • Main text
  • 13023_2016_Article_384.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: NIPAL4: A176D
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Targeting epidermal lipids for treatment of Mendelian disorders of cornification.

Orphanet Journal Of Rare Diseases
Kiritsi, Dimitra D; Schauer, Franziska F; Wölfle, Ute U; Valari, Manthoula M; Bruckner-Tuderman, Leena L; Has, Cristina C; Happle, Rudolf R
Publication Date: 2014-03-07

Variant appearance in text: NIPAL4: 527C>A; A176D
PubMed Link: 24607067
Variant Present in the following documents:
  • Main text
  • 1750-1172-9-33.pdf
View BVdb publication page



NIPAL4/ichthyin is expressed in the granular layer of human epidermis and mutated in two Pakistani families with autosomal recessive ichthyosis.

Dermatology (Basel, Switzerland)
Wajid, Muhammad M; Kurban, Mazen M; Shimomura, Yutaka Y; Christiano, Angela M AM
Publication Date: 2010

Variant appearance in text:
PubMed Link: 20016120
Variant Present in the following documents:
  • Main text
View BVdb publication page