RET c.1892A>T ;(p.D631V)

Variant ID: 10-43609940-A-T

NM_020975.4(RET):c.1892A>T;(p.D631V)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Prevalence of Germline Variants in a Large Cohort of Japanese Patients with Pheochromocytoma and/or Paraganglioma.

Cancers
Yonamine, Masato M; Wasano, Koichiro K; Aita, Yuichi Y; Sugasawa, Takehito T; Takahashi, Katsutoshi K; Kawakami, Yasushi Y; Shimano, Hitoshi H; Nishiyama, Hiroyuki H; Hara, Hisato H; Naruse, Mitsuhide M; Okamoto, Takahiro T; Matsuda, Tadashi T; Kosugi, Shinji S; Horiguchi, Kazuhiko K; Tanabe, Akiyo A; Watanabe, Atsushi A; Kimura, Noriko N; Nakamura, Eijiro E; Sakurai, Akihiro A; Shiga, Kiyoto K; Takekoshi, Kazuhiro K
Publication Date: 2021-08-09

Variant appearance in text: RET: 1892A>T; D631V
PubMed Link: 34439168
Variant Present in the following documents:
  • Main text
  • cancers-13-04014.pdf
View BVdb publication page



Predicting phenotypic severity of uncertain gene variants in the RET proto-oncogene.

Plos One
Crockett, David K DK; Piccolo, Stephen R SR; Ridge, Perry G PG; Margraf, Rebecca L RL; Lyon, Elaine E; Williams, Marc S MS; Mitchell, Joyce A JA
Publication Date: 2011-03-30

Variant appearance in text: RET: D631V
PubMed Link: 21479187
Variant Present in the following documents:
  • pone.0018380.pdf
View BVdb publication page



RET proto-oncogene genotyping using unlabeled probes, the masking technique, and amplicon high-resolution melting analysis.

The Journal Of Molecular Diagnostics : Jmd
Margraf, Rebecca L RL; Mao, Rong R; Highsmith, W Edward WE; Holtegaard, Leonard M LM; Wittwer, Carl T CT
Publication Date: 2007-04

Variant appearance in text: RET: D631V
PubMed Link: 17384210
Variant Present in the following documents:
  • Main text
View BVdb publication page



Nine novel germline gene variants in the RET proto-oncogene identified in twelve unrelated cases.

The Journal Of Molecular Diagnostics : Jmd
Ahmed, Syed A SA; Snow-Bailey, Karen K; Highsmith, W Edward WE; Sun, Weimin W; Fenwick, Raymond G RG; Mao, Rong R
Publication Date: 2005-05

Variant appearance in text: RET: D631V
PubMed Link: 15858153
Variant Present in the following documents:
  • Main text
View BVdb publication page