Varaico: Literature-Extracted Genetic Variants

Gene:AGR3
Variant:p.L13insFs

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
1 paper
NM_176813.5
p.L13insFs
c.38_39insG
Surrounding Variants
1 paper
NM_176813.5
p.N19I
c.56A>T
1 paper
NM_176813.5
p.M2_L3Fs
c.5_9delinsCATFs
1 paper
NM_176813.5
p.M2I
c.6G>A
1 paper
NM_176813.5
p.M1I
c.3G>T
1 paper
NM_176813.5
p.M1I
c.3G>A
1 paper
NM_176813.5
p.M1K
c.2T>A
1 paper
NM_176813.5
p.K25T
c.74A>C
1 paper
NM_176813.5
p.E27K
c.79G>A
1 paper
NM_176813.5
p.K28E
c.82A>G
1 paper
NM_176813.5
p.Q32R
c.95A>G
2 papers
NM_176813.5
p.L34I
c.100C>A
1 paper
NM_176813.5
p.L34P
c.101T>C
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