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.N181S

c.542A>G

Surrounding Variants

1 paper

NM_005313.5

p.L178V

c.532T>G

1 paper

NM_005313.5

p.N177S

c.530A>G

1 paper

NM_005313.5

p.A175_S176insG

c.523_527ins3

1 paper

NM_005313.5

p.L172L

c.514C>T

1 paper

NM_005313.5

p.S169F

c.506C>T

1 paper

NM_005313.5

p.S169T

c.505T>A

1 paper

NM_005313.5

p.E195K

c.583G>A

1 paper

NM_005313.5

p.D198A

c.593A>C

1 paper

NM_005313.5

p.F164I

c.490T>A

1 paper

NM_005313.5

p.D198E

c.594T>A

1 paper

NM_005313.5

p.D198E

c.594T>G

1 paper

NM_005313.5

p.G200R

c.598G>A