Varaico: Literature-Extracted Genetic Variants

Gene:PDIA3
Variant:p.L6L

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.L6L
c.18A>T
Surrounding Variants
1 paper
NM_005313.5
p.A7S
c.19G>T
1 paper
NM_005313.5
p.F9L
c.25T>C
1 paper
NM_005313.5
p.P10L
c.29C>T
1 paper
NM_005313.5
p.R2P
c.5G>C
1 paper
NM_005313.5
p.G11D
c.32G>A
1 paper
NM_005313.5
p.M1I
c.3G>C
1 paper
NM_005313.5
p.R2ins1
c.4_5insCCC
1 paper
NM_005313.5
p.M1I
c.3G>T
1 paper
NM_005313.5
p.G11G
c.33T>A
1 paper
NM_005313.5
p.M1T
c.2T>C
1 paper
NM_005313.5
p.M1L
c.1A>C
1 paper
NM_005313.5
p.M1L
c.1A>T
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