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SI c.619A>T ;(p.S207C)
Variant ID: 3-164785144-T-A
NM_001041.3(
SI
):c.619A>T;(p.S207C)
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:
Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.
Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11
Variant appearance in text: SI: S207C
PubMed Link:
36467812
Variant Present in the following documents:
JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page
Structural and functional analysis of Nup120 suggests ring formation of the Nup84 complex.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Seo, Hyuk-Soo HS; Ma, Yingli Y; Debler, Erik W EW; Wacker, Daniel D; Kutik, Stephan S; Blobel, Günter G; Hoelz, André A
Publication Date: 2009-08-25
Variant appearance in text: SI: S207C
PubMed Link:
19706512
Variant Present in the following documents:
Main text
View BVdb publication page
Functionally important glycosyltransferase gain and loss during catarrhine primate emergence.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Koike, Chihiro C; Uddin, Monica M; Wildman, Derek E DE; Gray, Edward A EA; Trucco, Massimo M; Starzl, Thomas E TE; Goodman, Morris M
Publication Date: 2007-01-09
Variant appearance in text: SI: S207C
PubMed Link:
17194757
Variant Present in the following documents:
Main text
View BVdb publication page