Bibliome.ai browser hg19
SDHA c.891T>A ;(p.P297=)
Variant ID: 5-231111-T-A
NM_004168.2(SDHA ):c.891T>A;(p.P297=)
This variant was identified in 7 publications
Variant-Specific Resource Links:
Publications:
OpenCustomDB: Integration of Unannotated Open Reading Frames and Genetic Variants to Generate More Comprehensive Customized Protein Databases.
Journal Of Proteome Research
Guilloy, Noé N; Brunet, Marie A MA; Leblanc, Sébastien S; Jacques, Jean-François JF; Hardy, Marie-Pierre MP; Ehx, Grégory G; Lanoix, Joël J; Thibault, Pierre P; Perreault, Claude C; Roucou, Xavier X
Publication Date: 2023-03-24
Variant appearance in text: SDHA: Pro297Pro
Variant Present in the following documents:
pr3c00054_si_002.xlsx, sheet 2
Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14
Variant appearance in text: SDHA: P297P
Variant Present in the following documents:
41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.
Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08
Variant appearance in text: SDHA: P297P
Variant Present in the following documents:
41439_2022_208_MOESM4_ESM.xlsx, sheet 2
41439_2022_208_MOESM3_ESM.xlsx, sheet 2
41439_2022_208_MOESM5_ESM.xlsx, sheet 2
The emerging role and targetability of the TCA cycle in cancer metabolism.
Protein & Cell
Anderson, Nicole M NM; Mucka, Patrick P; Kern, Joseph G JG; Feng, Hui H
Publication Date: 2018-02
Variant appearance in text: SDHA: 891T>A
Variant Present in the following documents:
Main text
13238_2017_Article_451.pdf
Sources of discordance among germ-line variant classifications in ClinVar.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10
Variant appearance in text: SDHA: Pro297=
Variant Present in the following documents:
gim201760x7.xlsx, sheet 2
Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.
Oncotarget
Raaijmakers, Marieke I G MI; Widmer, Daniel S DS; Narechania, Apurva A; Eichhoff, Ossia O; Freiberger, Sandra N SN; Wenzina, Judith J; Cheng, Phil F PF; Mihic-Probst, Daniela D; Desalle, Rob R; Dummer, Reinhard R; Levesque, Mitchell P MP
Publication Date: 2016-11-22
Variant appearance in text: SDHA: P297P
Variant Present in the following documents:
oncotarget-07-77163-s002.xlsx, sheet 18
oncotarget-07-77163-s002.xlsx, sheet 16
oncotarget-07-77163-s003.xlsx, sheet 18
oncotarget-07-77163-s003.xlsx, sheet 16
Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.
Human Genomics
Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A
Publication Date: 2014-12-11
Variant appearance in text: SDHA: P297P
Variant Present in the following documents:
40246_2014_20_MOESM1_ESM.xlsx, sheet 1