Varaico: Literature-Extracted Genetic Variants

Gene:AGR2
Variant:p.C81S

AGR2

47 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 53–133UCSCThioredoxin-like

Gene Aliases

HGNC Name

anterior gradient 2, protein disulphide isomerase family member

HGNC Alias Symbols

XAG-2; HAG-2; AG2; PDIA17

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_006408.4
p.C81S
c.241T>A
Surrounding Variants
6 papers
NM_006408.4
p.C81S
c.242G>C
1 paper
NM_006408.4
p.C81W
c.243C>G
1 paper
NM_006408.4
p.S84R
c.250A>C
1 paper
NM_006408.4
p.S84R
c.252T>G
1 paper
NM_006408.4
p.S84R
c.252T>A
1 paper
NM_006408.4
p.H76D
c.226C>G
1 paper
NM_006408.4
p.M73I
c.219G>T
1 paper
NM_006408.4
p.M73delFs
c.217delT
4 papers
NM_006408.4
p.P71T
c.211C>A
1 paper
NM_006408.4
p.T67A
c.199A>G
1 paper
NM_006408.4
p.K64N
c.192A>T
1 paper
NM_006408.4
p.K64N
c.192A>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."