TTLL1 c.10A>G ;(p.K4E)

Variant ID: 22-43471583-T-C

NM_012263.4(TTLL1):c.10A>G;(p.K4E)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency.

Nature Communications
Kanazawa, Nobuo N; Hemmi, Hiroaki H; Kinjo, Noriko N; Ohnishi, Hidenori H; Hamazaki, Jun J; Mishima, Hiroyuki H; Kinoshita, Akira A; Mizushima, Tsunehiro T; Hamada, Satoru S; Hamada, Kazuya K; Kawamoto, Norio N; Kadowaki, Saori S; Honda, Yoshitaka Y; Izawa, Kazushi K; Nishikomori, Ryuta R; Tsumura, Miyuki M; Yamashita, Yusuke Y; Tamura, Shinobu S; Orimo, Takashi T; Ozasa, Toshiya T; Kato, Takashi T; Sasaki, Izumi I; Fukuda-Ohta, Yuri Y; Wakaki-Nishiyama, Naoko N; Inaba, Yutaka Y; Kunimoto, Kayo K; Okada, Satoshi S; Taketani, Takeshi T; Nakanishi, Koichi K; Murata, Shigeo S; Yoshiura, Koh-Ichiro KI; Kaisho, Tsuneyasu T
Publication Date: 2021-11-24

Variant appearance in text: rs79088468
PubMed Link: 34819510
Variant Present in the following documents:
  • 41467_2021_27085_MOESM1_ESM.pdf
View BVdb publication page



Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency.

Nature Communications
Kanazawa, Nobuo N; Hemmi, Hiroaki H; Kinjo, Noriko N; Ohnishi, Hidenori H; Hamazaki, Jun J; Mishima, Hiroyuki H; Kinoshita, Akira A; Mizushima, Tsunehiro T; Hamada, Satoru S; Hamada, Kazuya K; Kawamoto, Norio N; Kadowaki, Saori S; Honda, Yoshitaka Y; Izawa, Kazushi K; Nishikomori, Ryuta R; Tsumura, Miyuki M; Yamashita, Yusuke Y; Tamura, Shinobu S; Orimo, Takashi T; Ozasa, Toshiya T; Kato, Takashi T; Sasaki, Izumi I; Fukuda-Ohta, Yuri Y; Wakaki-Nishiyama, Naoko N; Inaba, Yutaka Y; Kunimoto, Kayo K; Okada, Satoshi S; Taketani, Takeshi T; Nakanishi, Koichi K; Murata, Shigeo S; Yoshiura, Koh-Ichiro KI; Kaisho, Tsuneyasu T
Publication Date: 2021-11-24

Variant appearance in text: rs79088468
PubMed Link: 34819510
Variant Present in the following documents:
  • 41467_2021_27085_MOESM1_ESM.pdf
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: TTLL1: K4E; rs79088468
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
View BVdb publication page



XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One
Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F
Publication Date: 2015

Variant appearance in text: rs79088468
PubMed Link: 25905921
Variant Present in the following documents:
  • pone.0123569.s008.xls, sheet 10
  • pone.0123569.s008.xls, sheet 2
  • pone.0123569.s008.xls, sheet 9
  • pone.0123569.s008.xls, sheet 8
  • pone.0123569.s008.xls, sheet 1
  • pone.0123569.s008.xls, sheet 11
  • pone.0123569.s008.xls, sheet 5
  • pone.0123569.s008.xls, sheet 7
  • pone.0123569.s008.xls, sheet 6
View BVdb publication page