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.S25_D26delFs

c.75_76delCG

Surrounding Variants

1 paper

NM_005313.5

p.A23A

c.69T>C

1 paper

NM_005313.5

p.A23V

c.68C>T

6 papers

NM_005313.5

p.R20R

c.60C>A

1 paper

NM_005313.5

p.L30H

c.89T>A

1 paper

NM_005313.5

p.L30P

c.89T>C

2 papers

NM_005313.5

p.L30R

c.89T>G

1 paper

NM_005313.5

p.R20C

c.58C>T

1 paper

NM_005313.5

p.A19D

c.56C>A

1 paper

NM_005313.5

p.D32N

c.94G>A

1 paper

NM_005313.5

p.A18E

c.53C>A

1 paper

NM_005313.5

p.A18T

c.52G>A

2 papers

NM_005313.5

p.D33N

c.97G>A