Varaico: Literature-Extracted Genetic Variants

Gene:AGR2
Variant:p.G143E

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
4 papers
NM_006408.4
p.G143E
c.428G>A
Surrounding Variants
1 paper
NM_006408.4
p.G143V
c.428G>T
1 paper
NM_006408.4
p.D140N
c.418G>A
1 paper
NM_006408.4
p.S146_N147delFs
c.436_439del4
1 paper
NM_006408.4
p.A139P
c.415G>C
1 paper
NM_006408.4
p.R148C
c.442C>T
1 paper
NM_006408.4
p.R148H
c.443G>A
1 paper
NM_006408.4
p.Y152*
c.456C>G
1 paper
NM_006408.4
p.Y152*
c.456C>A
1 paper
NM_006408.4
p.E153K
c.457G>A
1 paper
NM_006408.4
p.D132Y
c.394G>T
1 paper
NM_006408.4
p.A155T
c.463G>A
1 paper
NM_006408.4
p.D132Splc
c.395-2A>T
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