GLA c.1013A>C ;(p.E338A)

Variant ID: X-100653074-T-G

NM_000169.2(GLA):c.1013A>C;(p.E338A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: GLA: E338A
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Structure of the Shigella T3SS effector IpaH defines a new class of E3 ubiquitin ligases.

Nature Structural & Molecular Biology
Singer, Alexander U AU; Rohde, John R JR; Lam, Robert R; Skarina, Tatiana T; Kagan, Olga O; Dileo, Rosa R; Chirgadze, Nickolay Y NY; Cuff, Marianne E ME; Joachimiak, Andrzej A; Tyers, Mike M; Sansonetti, Philippe J PJ; Parsot, Claude C; Savchenko, Alexei A
Publication Date: 2008-12

Variant appearance in text: GALA: E338A
PubMed Link: 18997778
Variant Present in the following documents:
  • Main text
View BVdb publication page