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.A45T

c.133G>A

Surrounding Variants

1 paper

NM_005313.5

p.G43V

c.128G>T

1 paper

NM_005313.5

p.L47_M48del1

c.140_142delTCA

1 paper

NM_005313.5

p.G43S

c.127G>A

3 papers

NM_005313.5

p.D41Y

c.121G>T

1 paper

NM_005313.5

p.S40A

c.118T>G

1 paper

NM_005313.5

p.S40_D41del2

c.118_122del6

1 paper

NM_005313.5

p.R38P

c.113G>C

1 paper

NM_005313.5

p.S37_R38insCC

c.109_113ins6

1 paper

NM_005313.5

p.D33E

c.99C>A

1 paper

NM_005313.5

p.D33E

c.99C>G

1 paper

NM_005313.5

p.D33A

c.98A>C

2 papers

NM_005313.5

p.D33N

c.97G>A