Varaico: Literature-Extracted Genetic Variants

Gene:AGR2
Variant:p.L10V

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.L10V
c.28T>G
Surrounding Variants
1 paper
NM_006408.4
p.L10insFs
c.29_30insC
1 paper
NM_006408.4
p.L10F
c.30G>T
1 paper
NM_006408.4
p.L11I
c.31C>A
1 paper
NM_006408.4
p.L12V
c.34C>G
1 paper
NM_006408.4
p.A14fs
c.40_41fs
1 paper
NM_006408.4
p.R21T
c.62G>C
1 paper
NM_006408.4
p.D22G
c.65A>G
2 papers
NM_006408.4
p.K31R
c.92A>G
1 paper
NM_006408.4
p.K31N
c.93G>T
1 paper
NM_006408.4
p.K31N
c.93G>C
1 paper
NM_006408.4
p.K34M
c.101A>T
1 paper
NM_006408.4
p.D35fs
c.103_104fs
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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."