Varaico: Literature-Extracted Genetic Variants

Gene:ERLEC1
Variant:p.H413Q

ERLEC1

44 papers

RefSeq Summary

This gene encodes a resident endoplasmic reticulum (ER) protein that functions in N-glycan recognition. This protein is thought to be involved in ER-associated degradation via its interaction with the...

Pfam Domains

PRKCSHaa 111–199UCSCGlucosidase II beta subunit-like protein
PRKCSHaa 342–421UCSCGlucosidase II beta subunit-like protein

Gene Aliases

HGNC Name

endoplasmic reticulum lectin 1

HGNC Previous Symbol

C2orf30

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015701.5
p.H413Q
c.1239T>A
Surrounding Variants
1 paper
NM_015701.5
p.H413Q
c.1239T>G
1 paper
NM_015701.5
p.H413D
c.1237C>G
4 papers
NM_015701.5
p.H413Y
c.1237C>T
1 paper
NM_015701.5
p.E451Q
c.1351G>C
1 paper
NM_015701.5
p.A397T
c.1189G>A
1 paper
NM_015701.5
p.T380A
c.1138A>G
1 paper
NM_015701.5
p.N483S
c.1448A>G
1 paper
NM_015701.5
p.H363R
c.1088A>G
1 paper
NM_015701.5
p.I326V
c.976A>G
2 papers
NM_015701.5
p.V318L
c.952G>C
1 paper
NM_015701.5
p.V318L
c.952G>T
1 paper
NM_015701.5
p.S310L
c.929C>T
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