Varaico: Literature-Extracted Genetic Variants

Gene:AGR3
Variant:p.E103K

AGR3

98 papers

RefSeq Summary

This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein h...

Pfam Domains

Thioredoxin_7aa 43–124UCSCThioredoxin-like

Gene Aliases

HGNC Name

anterior gradient 3, protein disulphide isomerase family member

HGNC Alias Symbols

HAG3; hAG-3; BCMP11; PDIA18

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_176813.5
p.E103K
c.307G>A
Surrounding Variants
1 paper
NM_176813.5
p.T105_S110delFs
c.314_329del16
1 paper
NM_176813.5
p.P111R
c.332C>G
1 paper
NM_176813.5
p.Q114R
c.341A>G
1 paper
NM_176813.5
p.Y115insFs
c.344_345insC
1 paper
NM_176813.5
p.V116M
c.346G>A
1 paper
NM_176813.5
p.D123Splc
c.367+1G>T
1 paper
NM_176813.5
p.M101T
c.302T>C
1 paper
NM_176813.5
p.M97I
c.291G>T
1 paper
NM_176813.5
p.M97I
c.291G>C
1 paper
NM_176813.5
p.M97I
c.291G>A
1 paper
NM_176813.5
p.M97insFs
c.290_291insA
1 paper
NM_176813.5
p.Q92H
c.276G>T
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