RET c.1925T>C ;(p.V642A)

Variant ID: 10-43609973-T-C

NM_020975.4(RET):c.1925T>C;(p.V642A)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Increased expression of Nrf2 and elevated glucose uptake in pheochromocytoma and paraganglioma with SDHB gene mutation.

Bmc Cancer
Kamai, Takao T; Murakami, Satoshi S; Arai, Kyoko K; Nishihara, Daisaku D; Uematsu, Toshitaka T; Ishida, Kazuyuki K; Kijima, Toshiki T
Publication Date: 2022-03-18

Variant appearance in text: RET: Val642Ala
PubMed Link: 35300626
Variant Present in the following documents:
  • Main text
  • 12885_2022_Article_9415.pdf
View BVdb publication page


Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
Publication Date: 2018

Variant appearance in text: RET: V642A
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 2
  • pone.0196434.s001.xlsx, sheet 1
View BVdb publication page