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NPEPPS c.1429G>A ;(p.D477N)
Variant ID: 17-45673721-G-A
NM_006310.3(
NPEPPS
):c.1429G>A;(p.D477N)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium.
Scientific Reports
Popp, Bernt B; Krumbiegel, Mandy M; Grosch, Janina J; Sommer, Annika A; Uebe, Steffen S; Kohl, Zacharias Z; Plötz, Sonja S; Farrell, Michaela M; Trautmann, Udo U; Kraus, Cornelia C; Ekici, Arif B AB; Asadollahi, Reza R; Regensburger, Martin M; Günther, Katharina K; Rauch, Anita A; Edenhofer, Frank F; Winkler, Jürgen J; Winner, Beate B; Reis, André A
Publication Date: 2018-11-21
Variant appearance in text: NPEPPS: 1429G>A; Asp477Asn
PubMed Link:
30464253
Variant Present in the following documents:
41598_2018_35506_MOESM5_ESM.xlsx, sheet 4
View BVdb publication page
Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.
Genome Medicine
Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T
Publication Date: 2017-07-18
Variant appearance in text: NPEPPS: D477N
PubMed Link:
28716134
Variant Present in the following documents:
13073_2017_454_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page