Varaico: Literature-Extracted Genetic Variants

Gene:ERO1A
Variant:p.A196A

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
Selected Variant
1 paper
NM_014584.3
p.A196A
c.588T>C
Surrounding Variants
1 paper
NM_014584.3
p.Y204fs
c.610_611fs
1 paper
NM_014584.3
p.Y204_E205delFs
c.612_613delCG
1 paper
NM_014584.3
p.C208S
c.622T>A
1 paper
NM_014584.3
p.C208S
c.623G>C
1 paper
NM_014584.3
p.N164_F165delFs
c.492_493delAG
1 paper
NM_014584.3
p.D159A
c.476A>C
1 paper
NM_014584.3
p.Q149L
c.446A>T
1 paper
NM_014584.3
p.E132K
c.394G>A
1 paper
NM_014584.3
p.E123K
c.367G>A
1 paper
NM_014584.3
p.E230E
c.690G>A
1 paper
NM_014584.3
p.G239V
c.716G>T
1 paper
NM_014584.3
p.A256T
c.766G>A
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