Varaico: Literature-Extracted Genetic Variants

Gene:AGR3
Variant:p.L140F

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.L140F
c.420G>C
Surrounding Variants
1 paper
NM_176813.5
p.L140F
c.420G>T
1 paper
NM_176813.5
p.N138K
c.414C>G
1 paper
NM_176813.5
p.N138S
c.413A>G
1 paper
NM_176813.5
p.R135I
c.404G>T
1 paper
NM_176813.5
p.G134*
c.400G>T
1 paper
NM_176813.5
p.G134R
c.400G>A
1 paper
NM_176813.5
p.R129K
c.386G>A
1 paper
NM_176813.5
p.T127A
c.379A>G
1 paper
NM_176813.5
p.D123D
c.369C>T
1 paper
NM_176813.5
p.D123Splc
c.367+1G>T
1 paper
NM_176813.5
p.V116M
c.346G>A
1 paper
NM_176813.5
p.Y115insFs
c.344_345insC
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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."