COL17A1 c.1306G>A ;(p.G436R)

Variant ID: 10-105816892-C-T

NM_000494.3(COL17A1):c.1306G>A;(p.G436R)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Cells from discarded dressings differentiate chronic from acute wounds in patients with Epidermolysis Bullosa.

Scientific Reports
Fuentes, Ignacia I; Guttmann-Gruber, Christina C; Tockner, Birgit B; Diem, Anja A; Klausegger, Alfred A; Cofré-Araneda, Glenda G; Figuera, Olga O; Hidalgo, Yessia Y; Morandé, Pilar P; Palisson, Francis F; Rebolledo-Jaramillo, Boris B; Yubero, María Joao MJ; Cho, Raymond J RJ; Rishel, Heather I HI; Marinkovich, M Peter MP; Teng, Joyce M C JMC; Webster, Timothy G TG; Prisco, Marco M; Eraso, Luis H LH; Piñon Hofbauer, Josefina J; South, Andrew P AP
Publication Date: 2020-09-15

Variant appearance in text: COL17A1: 1306G>A
PubMed Link: 32934247
Variant Present in the following documents:
  • 41598_2020_71794_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Functional Characterization of Rare RAB12 Variants and Their Role in Musician's and Other Dystonias.

Genes
Hebert, Eva E; Borngräber, Friederike F; Schmidt, Alexander A; Rakovic, Aleksandar A; Brænne, Ingrid I; Weissbach, Anne A; Hampf, Jennie J; Vollstedt, Eva-Juliane EJ; Größer, Leopold L; Schaake, Susen S; Müller, Michaela M; Manzoor, Humera H; Jabusch, Hans-Christian HC; Alvarez-Fischer, Daniel D; Kasten, Meike M; Kostic, Vladimir S VS; Gasser, Thomas T; Zeuner, Kirsten E KE; Kim, Han-Joon HJ; Jeon, Beomseok B; Bauer, Peter P; Altenmüller, Eckart E; Klein, Christine C; Lohmann, Katja K
Publication Date: 2017-10-18

Variant appearance in text: COL17A1: 1306G>A; G436R; rs805697
PubMed Link: 29057844
Variant Present in the following documents:
  • genes-08-00276-s001.pdf
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: COL17A1: 1306G>A; G436R; rs805697
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry
Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE
Publication Date: 2016-12

Variant appearance in text: COL17A1: G436R; rs805697
PubMed Link: 27001614
Variant Present in the following documents:
  • NIHMS753666-supplement-2.xlsx, sheet 9
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: COL17A1: G436R; rs805697
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death.

Bmc Medical Genetics
Bagnall, Richard D RD; Molloy, Laura K LK; Kalman, Jonathan M JM; Semsarian, Christopher C
Publication Date: 2014-09-16

Variant appearance in text: COL17A1: GLY436ARG
PubMed Link: 25224718
Variant Present in the following documents:
  • 12881_2014_99_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Publication Date: 2013-11

Variant appearance in text: rs805697
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx, sheet 2
View BVdb publication page