Varaico: Literature-Extracted Genetic Variants

Gene:ERLEC1
Variant:p.I131T

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.I131T
c.392T>C
Surrounding Variants
1 paper
NM_015701.5
p.E139D
c.417A>T
1 paper
NM_015701.5
p.T140S
c.418A>T
1 paper
NM_015701.5
p.T140S
c.419C>G
1 paper
NM_015701.5
p.T140I
c.419C>T
1 paper
NM_015701.5
p.W121*
c.363G>A
1 paper
NM_015701.5
p.W121*
c.362G>A
1 paper
NM_015701.5
p.R116_I117Splc
c.348+11T>C
1 paper
NM_015701.5
p.S111G
c.331A>G
1 paper
NM_015701.5
p.L104W
c.311T>G
1 paper
NM_015701.5
p.Y66C
c.197A>G
1 paper
NM_015701.5
p.R205W
c.613C>T
1 paper
NM_015701.5
p.C244F
c.731G>T
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