Varaico: Literature-Extracted Genetic Variants

Gene:PDIA3
Variant:p.K417insFs

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.K417insFs
c.1251dupA
Surrounding Variants
1 paper
NM_005313.5
p.H408R
c.1223A>G
2 papers
NM_005313.5
p.C406S
c.1217G>C
2 papers
NM_005313.5
p.C406S
c.1216T>A
1 paper
NM_005313.5
p.F401Y
c.1202T>A
1 paper
NM_005313.5
p.V397M
c.1189G>A
1 paper
NM_005313.5
p.F386L
c.1158T>A
1 paper
NM_005313.5
p.F386L
c.1158T>G
1 paper
NM_005313.5
p.F386L
c.1156T>C
1 paper
NM_005313.5
p.V381insFs
c.1142dupT
1 paper
NM_005313.5
p.K425R
c.1274A>G
1 paper
NM_005313.5
p.D426E
c.1278C>A
1 paper
NM_005313.5
p.D426E
c.1278C>G
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