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TULP2 c.364G>C ;(p.G122R)
Variant ID: 19-49398405-C-G
NM_003323.2(
TULP2
):c.364G>C;(p.G122R)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015
Variant appearance in text: rs34378208
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
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: rs34378208
PubMed Link:
25905921
Variant Present in the following documents:
pone.0123569.s008.xls, sheet 1
pone.0123569.s008.xls, sheet 3
View BVdb publication page
Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.
Scientific Reports
Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R
Publication Date: 2015-03-16
Variant appearance in text: rs34378208
PubMed Link:
25773295
Variant Present in the following documents:
srep09124-s3.xls, sheet 1
View BVdb publication page