Varaico: Literature-Extracted Genetic Variants

Gene:ERO1A

ERO1A

28 papers

Pfam Domains

ERO1aa 60–457UCSCEndoplasmic Reticulum Oxidoreductin 1 (ERO1)

Gene Aliases

HGNC Name

endoplasmic reticulum oxidoreductase 1 alpha

HGNC Previous Symbol

ERO1L

Papers
RefSeq ID
Protein change
DNA change
1–12 of 24 variants
1 paper
NM_014584.3
p.L17M
c.49C>A
1 paper
NM_014584.3
p.C37C
c.111C>T
1 paper
NM_014584.3
p.V101G
c.302T>G
1 paper
NM_014584.3
p.V109G
c.326T>G
1 paper
NM_014584.3
p.E123K
c.367G>A
1 paper
NM_014584.3
p.E132K
c.394G>A
1 paper
NM_014584.3
p.Q149L
c.446A>T
1 paper
NM_014584.3
p.D159A
c.476A>C
1 paper
NM_014584.3
p.N164_F165delFs
c.492_493delAG
1 paper
NM_014584.3
p.A196A
c.588T>C
1 paper
NM_014584.3
p.Y204fs
c.610_611fs
1 paper
NM_014584.3
p.Y204_E205delFs
c.612_613delCG
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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."