Varaico: Literature-Extracted Genetic Variants

Gene:ERP27
Variant:p.E68delFs

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.E68delFs
c.202_203delTC
Surrounding Variants
1 paper
NM_152321.4
p.E68fs
c.202_203fs
1 paper
NM_152321.4
p.D66_L67delFs
c.196_199del4
1 paper
NM_152321.4
p.D66fs
c.196_197fs
1 paper
NM_152321.4
p.G84V
c.251G>T
1 paper
NM_152321.4
p.G84_V85delFs
c.252_255del4
1 paper
NM_152321.4
p.R110C
c.328C>T
1 paper
NM_152321.4
p.A59V
c.176C>T
1 paper
NM_152321.4
p.I53V
c.157A>G
1 paper
NM_152321.4
p.D32Splc
c.95-47G>T
1 paper
NM_152321.4
p.V23I
c.67G>A
1 paper
NM_152321.4
p.A20D
c.59C>A
1 paper
NM_152321.4
p.F13L
c.37T>C
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