Varaico: Literature-Extracted Genetic Variants

Gene:ERP27
Variant:p.R262C

ERP27

25 papers

RefSeq Summary

This gene encodes a noncatalytic member of the protein disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins. The canonical protein has an N-terminal signal sequence, two thioredoxin...

Pfam Domains

Thioredoxin_6aa 64–251UCSCThioredoxin-like domain

Gene Aliases

HGNC Name

endoplasmic reticulum protein 27

HGNC Previous Symbol

C12orf46

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152321.4
p.R262C
c.784C>T
Surrounding Variants
1 paper
NM_152321.4
p.E272_*274delFs
c.816_822del7
3 papers
NM_152321.4
p.F252_G255del4
c.754_764del12
1 paper
NM_152321.4
p.G251E
c.752G>A
1 paper
NM_152321.4
p.S241S
c.723C>T
1 paper
NM_152321.4
p.D233G
c.698A>G
1 paper
NM_152321.4
p.E231A
c.692A>C
1 paper
NM_152321.4
p.E231K
c.691G>A
1 paper
NM_152321.4
p.M202_K203del2
c.604_608del6
1 paper
NM_152321.4
p.D199H
c.595G>C
1 paper
NM_152321.4
p.I196L
c.586A>C
1 paper
NM_152321.4
p.E122K
c.364G>A
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