Varaico: Literature-Extracted Genetic Variants

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.D426E

c.1278C>G

Surrounding Variants

1 paper

NM_005313.5

p.D426E

c.1278C>A

1 paper

NM_005313.5

p.P427A

c.1279C>G

1 paper

NM_005313.5

p.K425R

c.1274A>G

1 paper

NM_005313.5

p.K433K

c.1299G>A

1 paper

NM_005313.5

p.M434V

c.1300A>G

1 paper

NM_005313.5

p.D435N

c.1303G>A

1 paper

NM_005313.5

p.K417insFs

c.1251dupA

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