TTN c.805C>T ;(p.P269S)

Variant ID: 2-179664323-G-A

NM_001267550.1(TTN):c.805C>T;(p.P269S)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine
Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY
Publication Date: 2022-05-17

Variant appearance in text: TTN: 805C>T; Pro269Ser
PubMed Link: 35584624
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: TTN: 805C>T; P269S
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Disruption of the Unique ABCG-Family NBD:NBD Interface Impacts Both Drug Transport and ATP Hydrolysis.

International Journal Of Molecular Sciences
Kapoor, Parth P; Briggs, Deborah A DA; Cox, Megan H MH; Kerr, Ian D ID
Publication Date: 2020-01-23

Variant appearance in text: TMD: P269S
PubMed Link: 31979415
Variant Present in the following documents:
  • Main text
  • ijms-21-00759.pdf
View BVdb publication page



The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Baldridge, Dustin D; Heeley, Jennifer J; Vineyard, Marisa M; Manwaring, Linda L; Toler, Tomi L TL; Fassi, Emily E; Fiala, Elise E; Brown, Sarah S; Goss, Charles W CW; Willing, Marcia M; Grange, Dorothy K DK; Kozel, Beth A BA; Shinawi, Marwan M
Publication Date: 2017-09

Variant appearance in text: TTN: 805C>T
PubMed Link: 28252636
Variant Present in the following documents:
  • NIHMS853380-supplement-supp_table1.xlsx, sheet 1
View BVdb publication page