CD38 c.418C>T ;(p.R140W)

Variant ID: 4-15826558-C-T

NM_001775.2(CD38):c.418C>T;(p.R140W)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


CD38-Cyclic ADP-Ribose Signal System in Physiology, Biochemistry, and Pathophysiology.

International Journal Of Molecular Sciences
Takasawa, Shin S
Publication Date: 2022-04-13

Variant appearance in text: CD38: Arg140Trp; rs1800561
PubMed Link: 35457121
Variant Present in the following documents:
  • Main text
  • ijms-23-04306.pdf
View BVdb publication page



Okamoto model for necrosis and its expansions, CD38-cyclic ADP-ribose signal system for intracellular Ca2+ mobilization and Reg (Regenerating gene protein)-Reg receptor system for cell regeneration.

Proceedings Of The Japan Academy. Series B, Physical And Biological Sciences
Okamoto, Hiroshi H; Takasawa, Shin S
Publication Date: 2021

Variant appearance in text: CD38: Arg140Trp; rs1800561
PubMed Link: 34629354
Variant Present in the following documents:
  • Main text
  • pjab-97-423.pdf
View BVdb publication page



CD markers polymorphisms as prognostic biomarkers in hematological malignancies.

Oncology Reviews
Shahrabi, Saeid S; Ghanavat, Majid M; Behzad, Masumeh Maleki MM; Purrahman, Daryush D; Saki, Najmaldin N
Publication Date: 2020-07-06

Variant appearance in text: rs1800561
PubMed Link: 32782727
Variant Present in the following documents:
  • Main text
  • onco-14-2-466.pdf
View BVdb publication page



CD38, CD157, and RAGE as Molecular Determinants for Social Behavior.

Cells
Higashida, Haruhiro H; Hashii, Minako M; Tanaka, Yukie Y; Matsukawa, Shigeru S; Higuchi, Yoshihiro Y; Gabata, Ryosuke R; Tsubomoto, Makoto M; Seishima, Noriko N; Teramachi, Mitsuyo M; Kamijima, Taiki T; Hattori, Tsuyoshi T; Hori, Osamu O; Tsuji, Chiharu C; Cherepanov, Stanislav M SM; Shabalova, Anna A AA; Gerasimenko, Maria M; Minami, Kana K; Yokoyama, Shigeru S; Munesue, Sei-Ichi SI; Harashima, Ai A; Yamamoto, Yasuhiko Y; Salmina, Alla B AB; Lopatina, Olga O
Publication Date: 2019-12-25

Variant appearance in text: rs1800561
PubMed Link: 31881755
Variant Present in the following documents:
  • Main text
  • cells-09-00062.pdf
View BVdb publication page



Recurrent PDGFRB mutations in unicentric Castleman disease.

Leukemia
Li, Zhaoming Z; Lan, Xuan X; Li, Chaoping C; Zhang, Yanjie Y; Wang, Yingjun Y; Xue, Weili W; Lu, Lisha L; Jin, Mengyuan M; Zhou, Zhiyuan Z; Wang, Xinhua X; Li, Ling L; Zhang, Lei L; Li, Xin X; Fu, Xiaorui X; Sun, Zhenchang Z; Wu, Jingjing J; Zhang, Xudong X; Yu, Hui H; Nan, Feifei F; Chang, Yu Y; Yan, Jiaqin J; Wu, Xiaolong X; Wang, Guannan G; Zhang, Dandan D; Zhang, Yuan Y; Young, Ken H KH; Zhang, Mingzhi M
Publication Date: 2019-04

Variant appearance in text: CD38: R140W
PubMed Link: 30607019
Variant Present in the following documents:
  • 41375_2018_323_MOESM5_ESM.xls, sheet 2
View BVdb publication page



Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology
Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C
Publication Date: 2018-12-13

Variant appearance in text: CD38: 418C>T; R140W; rs1800561
PubMed Link: 30545397
Variant Present in the following documents:
  • 13045_2018_679_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Expression and Regulatory Network Analysis of miR-140-3p, a New Potential Serum Biomarker for Autism Spectrum Disorder.

Frontiers In Molecular Neuroscience
Cirnigliaro, Matilde M; Barbagallo, Cristina C; Gulisano, Mariangela M; Domini, Carla N CN; Barone, Rita R; Barbagallo, Davide D; Ragusa, Marco M; Di Pietro, Cinzia C; Rizzo, Renata R; Purrello, Michele M
Publication Date: 2017

Variant appearance in text: CD38: R140W; rs1800561
PubMed Link: 28848387
Variant Present in the following documents:
  • Main text
  • fnmol-10-00250.pdf
View BVdb publication page



Is Oxytocin Application for Autism Spectrum Disorder Evidence-Based?

Experimental Neurobiology
Lee, Seung Yup SY; Lee, Ah Rah AR; Hwangbo, Ram R; Han, Juhee J; Hong, Minha M; Bahn, Geon Ho GH
Publication Date: 2015-12

Variant appearance in text: CD38: R140W; rs1800561
PubMed Link: 26713079
Variant Present in the following documents:
  • Main text
  • en-24-312.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: rs1800561
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: CD38: R140W
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Association Study between the CD157/BST1 Gene and Autism Spectrum Disorders in a Japanese Population.

Brain Sciences
Yokoyama, Shigeru S; Al Mahmuda, Naila N; Munesue, Toshio T; Hayashi, Kenshi K; Yagi, Kunimasa K; Yamagishi, Masakazu M; Higashida, Haruhiro H
Publication Date: 2015-05-20

Variant appearance in text: CD38: R140W; rs1800561
PubMed Link: 26010484
Variant Present in the following documents:
  • Main text
  • brainsci-05-00188.pdf
View BVdb publication page



A deletion involving CD38 and BST1 results in a fusion transcript in a patient with autism and asthma.

Autism Research : Official Journal Of The International Society For Autism Research
Ceroni, Fabiola F; Sagar, Angela A; Simpson, Nuala H NH; Gawthrope, Alex J T AJ; Newbury, Dianne F DF; Pinto, Dalila D; Francis, Sunday M SM; Tessman, Dorothy C DC; Cook, Edwin H EH; Monaco, Anthony P AP; Maestrini, Elena E; Pagnamenta, Alistair T AT; Jacob, Suma S
Publication Date: 2014-04

Variant appearance in text: CD38: R140W; rs1800561
PubMed Link: 24634087
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mouse models of mutations and variations in autism spectrum disorder-associated genes: mice expressing Caps2/Cadps2 copy number and alternative splicing variants.

International Journal Of Environmental Research And Public Health
Sadakata, Tetsushi T; Shinoda, Yo Y; Sato, Akira A; Iguchi, Hirotoshi H; Ishii, Chiaki C; Matsuo, Makoto M; Yamaga, Ryosuke R; Furuichi, Teiichi T
Publication Date: 2013-11-27

Variant appearance in text: CD38: R140W
PubMed Link: 24287856
Variant Present in the following documents:
  • Main text
  • ijerph-10-06335.pdf
View BVdb publication page



Non-synonymous single-nucleotide variations of the human oxytocin receptor gene and autism spectrum disorders: a case-control study in a Japanese population and functional analysis.

Molecular Autism
Ma, Wen-Jie WJ; Hashii, Minako M; Munesue, Toshio T; Hayashi, Kenshi K; Yagi, Kunimasa K; Yamagishi, Masakazu M; Higashida, Haruhiro H; Yokoyama, Shigeru S
Publication Date: 2013-07-01

Variant appearance in text: CD38: R140W
PubMed Link: 23815867
Variant Present in the following documents:
  • Main text
  • 2040-2392-4-22.pdf
View BVdb publication page



CD38 expression, function, and gene resequencing in a human lymphoblastoid cell line-based model system.

Leukemia & Lymphoma
Hartman, William R WR; Pelleymounter, Linda L LL; Moon, Irene I; Kalari, Krishna K; Liu, Mohan M; Wu, Tse-Yu TY; Escande, Carlos C; Nin, Veronica V; Chini, Eduardo N EN; Weinshilboum, Richard M RM
Publication Date: 2010-07

Variant appearance in text: CD38: Arg140Trp; rs1800561
PubMed Link: 20470215
Variant Present in the following documents:
  • Main text
View BVdb publication page