TXNDC5 c.740G>C ;(p.C247S)

Variant ID: 6-7889807-C-G

NM_030810.3(TXNDC5):c.740G>C;(p.C247S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: TXNDC5: C247S
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
View BVdb publication page



Thioredoxin-interacting protein regulates protein disulfide isomerases and endoplasmic reticulum stress.

Embo Molecular Medicine
Lee, Samuel S; Min Kim, Soo S; Dotimas, James J; Li, Letitia L; Feener, Edward P EP; Baldus, Stephan S; Myers, Ronald B RB; Chutkow, William A WA; Patwari, Parth P; Yoshioka, Jun J; Lee, Richard T RT
Publication Date: 2014-06

Variant appearance in text: PDIA15: C247S
PubMed Link: 24843047
Variant Present in the following documents:
  • Main text
  • emmm0006-0732.pdf
  • emmm0006-0732-sd12.pdf
View BVdb publication page