DSPP c.3636C>T ;(p.D1212=)

Variant ID: 4-88537450-C-T

NM_014208.3(DSPP):c.3636C>T;(p.D1212=)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: DSPP: D1212D
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Multiscale heterogeneity in gastric adenocarcinoma evolution is an obstacle to precision medicine.

Genome Medicine
Röcken, Christoph C; Amallraja, Anu A; Halske, Christine C; Opasic, Luka L; Traulsen, Arne A; Behrens, Hans-Michael HM; Krüger, Sandra S; Liu, Anne A; Haag, Jochen J; Egberts, Jan-Hendrik JH; Rosenstiel, Philip P; Meißner, Tobias T
Publication Date: 2021-11-08

Variant appearance in text: DSPP: D1212D
PubMed Link: 34749812
Variant Present in the following documents:
  • 13073_2021_975_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



A pan-cancer analysis of synonymous mutations.

Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12

Variant appearance in text: DSPP: 3636C>T
PubMed Link: 31189880
Variant Present in the following documents:
  • 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
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: DSPP: 3636C>T; D1212D; rs375071108
PubMed Link: 30545397
Variant Present in the following documents:
  • 13045_2018_679_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Splicing mutation analysis reveals previously unrecognized pathways in lymph node-invasive breast cancer.

Scientific Reports
Dorman, Stephanie N SN; Viner, Coby C; Rogan, Peter K PK
Publication Date: 2014-11-14

Variant appearance in text: DSPP: D1212D
PubMed Link: 25394353
Variant Present in the following documents:
  • srep07063-s2.xls, sheet 2
View BVdb publication page