Varaico: Literature-Extracted Genetic Variants

Gene:ERVFRD-1
Variant:p.R77Q
Back to variants list

ERVFRD-1

NM_207582.3:p.R77Q

Associated Papers

How Fragile We Are: Influence of Stimulator of Interferon Genes (STING) Variants on Pathogen Recognition and Immune Response Efficiency.

Morere J et al.

Journal of Chemical Information and Modeling, 2022

Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations.

Yang Q et al.

Bmc Medical Genetics, 2019

A Recurrent Mutation in Anaplastic Lymphoma Kinase with Distinct Neoepitope Conformations.

Toor JS et al.

Frontiers in Immunology, 2018

29441070 (PubMed )
Supplement: Data_Sheet_1.xlsx › PARHAM

The Common R71H-G230A-R293Q Human TMEM173 Is a Null Allele.

Patel S et al.

Journal of Immunology (baltimore, Md. : 1950), 2017

Molecular bases of congenital hypopigmentary disorders in humans and oculocutaneous albinism 1 in Japan.

Tomita Y et al.

Pigment Cell Research, 2000

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."