PC c.1193G>A ;(p.R398Q)

Variant ID: 11-66631420-C-T

NM_001040716.1(PC):c.1193G>A;(p.R398Q)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Systematic prediction of degrons and E3 ubiquitin ligase binding via deep learning.

Bmc Biology
Hou, Chao C; Li, Yuxuan Y; Wang, Mengyao M; Wu, Hong H; Li, Tingting T
Publication Date: 2022-07-14

Variant appearance in text: PC: R398Q
PubMed Link: 35836176
Variant Present in the following documents:
  • 12915_2022_1364_MOESM6_ESM.xlsx, sheet 3
View BVdb publication page



Conserved arginine residues in synaptotagmin 1 regulate fusion pore expansion through membrane contact.

Nature Communications
Nyenhuis, Sarah B SB; Karandikar, Nakul N; Kiessling, Volker V; Kreutzberger, Alex J B AJB; Thapa, Anusa A; Liang, Binyong B; Tamm, Lukas K LK; Cafiso, David S DS
Publication Date: 2021-02-03

Variant appearance in text: PC: R398Q
PubMed Link: 33536412
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_21090.pdf
  • 41467_2021_21090_MOESM1_ESM.pdf
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Ca2+-dependent release of synaptotagmin-1 from the SNARE complex on phosphatidylinositol 4,5-bisphosphate-containing membranes.

Elife
Voleti, Rashmi R; Jaczynska, Klaudia K; Rizo, Josep J
Publication Date: 2020-08-18

Variant appearance in text: PC: R398Q
PubMed Link: 32808925
Variant Present in the following documents:
  • Main text
  • elife-57154.pdf
View BVdb publication page



A molecular mechanism for calcium-mediated synaptotagmin-triggered exocytosis.

Nature Structural & Molecular Biology
Kiessling, Volker V; Kreutzberger, Alex J B AJB; Liang, Binyong B; Nyenhuis, Sarah B SB; Seelheim, Patrick P; Castle, J David JD; Cafiso, David S DS; Tamm, Lukas K LK
Publication Date: 2018-10

Variant appearance in text: PC: R398Q
PubMed Link: 30291360
Variant Present in the following documents:
  • Main text
  • nihms-1502306.pdf
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Synaptotagmin-1 C2B domain interacts simultaneously with SNAREs and membranes to promote membrane fusion.

Elife
Wang, Shen S; Li, Yun Y; Ma, Cong C
Publication Date: 2016-04-15

Variant appearance in text: PC: R398Q
PubMed Link: 27083046
Variant Present in the following documents:
  • elife-14211.pdf
View BVdb publication page



Phosphatidylinositol 4,5-bisphosphate clusters act as molecular beacons for vesicle recruitment.

Nature Structural & Molecular Biology
Honigmann, Alf A; van den Bogaart, Geert G; Iraheta, Emilio E; Risselada, H Jelger HJ; Milovanovic, Dragomir D; Mueller, Veronika V; Müllar, Stefan S; Diederichsen, Ulf U; Fasshauer, Dirk D; Grubmüller, Helmut H; Hell, Stefan W SW; Eggeling, Christian C; Kühnel, Karin K; Jahn, Reinhard R
Publication Date: 2013-06

Variant appearance in text: PC: R398Q
PubMed Link: 23665582
Variant Present in the following documents:
  • Main text
  • nihms460253.pdf
View BVdb publication page



Allosteric activation of the phosphoinositide phosphatase Sac1 by anionic phospholipids.

Biochemistry
Zhong, Shurong S; Hsu, FoSheng F; Stefan, Christopher J CJ; Wu, Xiaochun X; Patel, Anamika A; Cosgrove, Michael S MS; Mao, Yuxin Y
Publication Date: 2012-04-17

Variant appearance in text: PC: R398Q
PubMed Link: 22452743
Variant Present in the following documents:
  • Main text
  • bi300086c.pdf
View BVdb publication page



The Janus-faced nature of the C(2)B domain is fundamental for synaptotagmin-1 function.

Nature Structural & Molecular Biology
Xue, Mingshan M; Ma, Cong C; Craig, Timothy K TK; Rosenmund, Christian C; Rizo, Josep J
Publication Date: 2008-11

Variant appearance in text: PC: R398Q
PubMed Link: 18953334
Variant Present in the following documents:
  • Main text
  • nihms71770.pdf
View BVdb publication page