SACS c.10291G>C ;(p.V3431L)

Variant ID: 13-23907724-C-G

NM_014363.5(SACS):c.10291G>C;(p.V3431L)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Specific TP53 subtype as biomarker for immune checkpoint inhibitors in lung adenocarcinoma.

Ebiomedicine
Sun, Hao H; Liu, Si-Yang SY; Zhou, Jia-Ying JY; Xu, Jin-Tian JT; Zhang, Huang-Kai HK; Yan, Hong-Hong HH; Huan, Jiao-Jiao JJ; Dai, Ping-Ping PP; Xu, Chong-Rui CR; Su, Jian J; Guan, Yan-Fang YF; Yi, Xin X; Yu, Rong-Shan RS; Zhong, Wen-Zhao WZ; Wu, Yi-Long YL
Publication Date: 2020-10

Variant appearance in text: SACS: V3431L
PubMed Link: 32927274
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
View BVdb publication page



Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Bmc Medical Genetics
Zhou, Yingjie Y; Tariq, Muhammad M; He, Sijie S; Abdullah, Uzma U; Zhang, Jianguo J; Baig, Shahid Mahmood SM
Publication Date: 2020-07-18

Variant appearance in text: SACS: 10291G>C; Val3431Leu; rs144179865
PubMed Link: 32682410
Variant Present in the following documents:
  • 12881_2020_1087_MOESM1_ESM.xlsx, sheet 5
View BVdb publication page



Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell
Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD
Publication Date: 2018-05-14

Variant appearance in text: SACS: V3431L
PubMed Link: 29657128
Variant Present in the following documents:
  • mmc3.xlsx, sheet 4
  • mmc3.xlsx, sheet 2
View BVdb publication page



A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Immunity & Ageing : I & A
Villa, Francesco F; MaciÄ…g, Anna A; Spinelli, Chiara C CC; Ferrario, Anna A; Carrizzo, Albino A; Parisi, Attilio A; Torella, Annalaura A; Montenero, Chiara C; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale S AS; Puca, Annibale A AA
Publication Date: 2014

Variant appearance in text: N/A
PubMed Link: 25469153
Variant Present in the following documents:
View BVdb publication page



Exome sequencing identifies three novel candidate genes implicated in intellectual disability.

Plos One
Agha, Zehra Z; Iqbal, Zafar Z; Azam, Maleeha M; Ayub, Humaira H; Vissers, Lisenka E L M LE; Gilissen, Christian C; Ali, Syeda Hafiza Benish SH; Riaz, Moeen M; Veltman, Joris A JA; Pfundt, Rolph R; van Bokhoven, Hans H; Qamar, Raheel R
Publication Date: 2014

Variant appearance in text: SACS: Val3431Leu
PubMed Link: 25405613
Variant Present in the following documents:
  • Main text
  • pone.0112687.pdf
View BVdb publication page



Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Publication Date: 2014

Variant appearance in text: SACS: V3431L
PubMed Link: 24448499
Variant Present in the following documents:
  • NIHMS551112-supplement-9.xlsx, sheet 1
View BVdb publication page



Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.

Human Mutation
Romano, Alessandro A; Tessa, Alessandra A; Barca, Amilcare A; Fattori, Fabiana F; de Leva, Maria Fulvia MF; Terracciano, Alessandra A; Storelli, Carlo C; Santorelli, Filippo Maria FM; Verri, Tiziano T
Publication Date: 2013-03

Variant appearance in text: SACS: V3431L; rs144179865
PubMed Link: 23280630
Variant Present in the following documents:
  • humu0034-0525-SD1.pdf
View BVdb publication page