KCTD7 c.295C>T ;(p.R99*)

Variant ID: 7-66098412-C-T

NM_153033.4(KCTD7):c.295C>T;(p.R99*)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: KCTD7: 295C>T; Arg99Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



KCTD7 mutations impair the trafficking of lysosomal enzymes through CLN5 accumulation to cause neuronal ceroid lipofuscinoses.

Science Advances
Wang, Yalan Y; Cao, Xiaotong X; Liu, Pei P; Zeng, Weijia W; Peng, Rui R; Shi, Qing Q; Feng, Kai K; Zhang, Pingzhao P; Sun, Huiru H; Wang, Chenji C; Wang, Hongyan H
Publication Date: 2022-08-05

Variant appearance in text: KCTD7: R99X
PubMed Link: 35921411
Variant Present in the following documents:
  • sciadv.abm5578_sm.pdf
View BVdb publication page



A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.

Frontiers In Genetics
George, Arlene J AJ; Hoffiz, Yarely C YC; Charles, Antoinette J AJ; Zhu, Ying Y; Mabb, Angela M AM
Publication Date: 2018

Variant appearance in text: KCTD7: R99X
PubMed Link: 29491882
Variant Present in the following documents:
  • Table2.xlsx, sheet 1
View BVdb publication page



The KCTD family of proteins: structure, function, disease relevance.

Cell & Bioscience
Liu, Zhepeng Z; Xiang, Yaqian Y; Sun, Guihong G
Publication Date: 2013-11-24

Variant appearance in text: KCTD7: R99X
PubMed Link: 24268103
Variant Present in the following documents:
  • Main text
  • 2045-3701-3-45.pdf
View BVdb publication page



The emerging family of CULLIN3-RING ubiquitin ligases (CRL3s): cellular functions and disease implications.

The Embo Journal
Genschik, Pascal P; Sumara, Izabela I; Lechner, Esther E
Publication Date: 2013-08-28

Variant appearance in text: KCTD7: R99X
PubMed Link: 23912815
Variant Present in the following documents:
  • Main text
View BVdb publication page



A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.

American Journal Of Human Genetics
Staropoli, John F JF; Karaa, Amel A; Lim, Elaine T ET; Kirby, Andrew A; Elbalalesy, Naser N; Romansky, Stephen G SG; Leydiker, Karen B KB; Coppel, Scott H SH; Barone, Rosemary R; Xin, Winnie W; MacDonald, Marcy E ME; Abdenur, Jose E JE; Daly, Mark J MJ; Sims, Katherine B KB; Cotman, Susan L SL
Publication Date: 2012-07-13

Variant appearance in text: KCTD7: 295C>T
PubMed Link: 22748208
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.

Journal Of Medical Genetics
Kousi, Maria M; Anttila, Verneri V; Schulz, Angela A; Calafato, Stella S; Jakkula, Eveliina E; Riesch, Erik E; Myllykangas, Liisa L; Kalimo, Hannu H; Topçu, Meral M; Gökben, Sarenur S; Alehan, Fusun F; Lemke, Johannes R JR; Alber, Michael M; Palotie, Aarno A; Kopra, Outi O; Lehesjoki, Anna-Elina AE
Publication Date: 2012-06

Variant appearance in text: KCTD7: Arg99X
PubMed Link: 22693283
Variant Present in the following documents:
  • Main text
View BVdb publication page