EGF c.328_330delinsTGT ;(p.R110C)

Variant ID: 4-110864410-AGA-TGT

NM_001963.4(EGF):c.328_330delinsTGT;(p.R110C)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Factor VII Gene Defects: Review of Functional Studies and Their Clinical Implications

Iranian Biomedical Journal
Shahbazi, Shirin S; Mahdian, Reza R
Publication Date: 2019-05

Variant appearance in text: EGF: Arg110Cys
PubMed Link: 30797223
Variant Present in the following documents:
  • Main text
  • IBJ-23-165.pdf
View BVdb publication page



Functional and Molecular Characterization of C91S Mutation in the Second Epidermal Growth Factor-Like Domain of Factor VII.

Iranian Journal Of Biotechnology
Mashayekhi, Amir A; Shahbazi, Shirin S; Omrani, Mirdavood M
Publication Date: 2018-04

Variant appearance in text: EGF: Arg110Cys
PubMed Link: 30555841
Variant Present in the following documents:
  • Main text
  • ijb-2018-01-e1813.pdf
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: EGF: R110C
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
View BVdb publication page



A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget
Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2014-05-30

Variant appearance in text: EGF: R110C
PubMed Link: 24913145
Variant Present in the following documents:
  • oncotarget-05-2912-s003.xlsx, sheet 1
View BVdb publication page