Varaico: Literature-Extracted Genetic Variants

Gene:AGR2
Variant:p.K95R

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
1 paper
NM_006408.4
p.K95R
c.284A>G
Surrounding Variants
1 paper
NM_006408.4
p.E96*
c.286G>T
2 papers
NM_006408.4
p.E96K
c.286G>A
1 paper
NM_006408.4
p.N94S
c.281A>G
1 paper
NM_006408.4
p.I97T
c.290T>C
1 paper
NM_006408.4
p.A92G
c.275C>G
1 paper
NM_006408.4
p.A101T
c.301G>A
1 paper
NM_006408.4
p.E102*
c.304G>T
1 paper
NM_006408.4
p.K88N
c.264G>T
1 paper
NM_006408.4
p.K88N
c.264G>C
2 papers
NM_006408.4
p.Q103R
c.308A>G
3 papers
NM_006408.4
p.V110_Y111Splc
c.330+1G>T
1 paper
NM_006408.4
p.S84R
c.252T>G
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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."