Varaico: Literature-Extracted Genetic Variants

Gene:PDIA3
Variant:p.R20C

PDIA3

294 papers

RefSeq Summary

This gene encodes a protein of the endoplasmic reticulum that interacts with lectin chaperones calreticulin and calnexin to modulate folding of newly synthesized glycoproteins. The protein was once th...

Pfam Domains

Thioredoxinaa 26–130UCSCThioredoxin
Thioredoxin_6aa 160–355UCSCThioredoxin-like domain
Thioredoxinaa 377–482UCSCThioredoxin

Gene Aliases

HGNC Name

protein disulfide isomerase family A member 3

HGNC Previous Symbol

GRP58

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005313.5
p.R20C
c.58C>T
Surrounding Variants
6 papers
NM_005313.5
p.R20R
c.60C>A
1 paper
NM_005313.5
p.A19D
c.56C>A
1 paper
NM_005313.5
p.A18E
c.53C>A
1 paper
NM_005313.5
p.A18T
c.52G>A
1 paper
NM_005313.5
p.A23V
c.68C>T
1 paper
NM_005313.5
p.L16P
c.47T>C
1 paper
NM_005313.5
p.A23A
c.69T>C
1 paper
NM_005313.5
p.L16R
c.47T>G
1 paper
NM_005313.5
p.L16F
c.46C>T
1 paper
NM_005313.5
p.L15F
c.43C>T
1 paper
NM_005313.5
p.S25_D26delFs
c.75_76delCG
1 paper
NM_005313.5
p.L16del1
c.46_47delCTT
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