SDC3 c.622G>C ;(p.V208L)

Variant ID: 1-31349647-C-G

NM_014654.3(SDC3):c.622G>C;(p.V208L)

This variant was identified in 5 publications

View GRCh38 version.




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: rs2491132
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine
Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T
Publication Date: 2020-02

Variant appearance in text: SDC3: Val208Leu
PubMed Link: 31894249
Variant Present in the following documents:
  • Supplementary_Data2.xlsx, sheet 5
View BVdb publication page



Super-Obese Patient-Derived iPSC Hypothalamic Neurons Exhibit Obesogenic Signatures and Hormone Responses.

Cell Stem Cell
Rajamani, Uthra U; Gross, Andrew R AR; Hjelm, Brooke E BE; Sequeira, Adolfo A; Vawter, Marquis P MP; Tang, Jie J; Gangalapudi, Vineela V; Wang, Yizhou Y; Andres, Allen M AM; Gottlieb, Roberta A RA; Sareen, Dhruv D
Publication Date: 2018-05-03

Variant appearance in text: rs2491132
PubMed Link: 29681516
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs2491132
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35.

American Journal Of Human Genetics
Jordanova, Albena A; Thomas, Florian P FP; Guergueltcheva, Velina V; Tournev, Ivailo I; Gondim, Francisco A A FA; Ishpekova, Borjana B; De Vriendt, Els E; Jacobs, An A; Litvinenko, Ivan I; Ivanova, Neviana N; Buzhov, Borjan B; De Jonghe, Peter P; Kremensky, Ivo I; Timmerman, Vincent V
Publication Date: 2003-12

Variant appearance in text: rs2491132
PubMed Link: 14606043
Variant Present in the following documents:
  • Main text
View BVdb publication page