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

1–12 of 166 variants

6 papers

NM_005313.5

p.R20R

c.60C>A

4 papers

NM_005313.5

p.Q481K

c.1441C>A

3 papers

NM_005313.5

p.D41Y

c.121G>T

3 papers

NM_005313.5

p.D217N

c.649G>A

2 papers

NM_005313.5

p.L30R

c.89T>G

2 papers

NM_005313.5

p.D33N

c.97G>A

2 papers

NM_005313.5

p.C57Y

c.170G>A

2 papers

NM_005313.5

p.A69T

c.205G>A

2 papers

NM_005313.5

p.G158S

c.472G>A

2 papers

NM_005313.5

p.C406S

c.1216T>A

2 papers

NM_005313.5

p.C406S

c.1217G>C

1 paper

NM_005313.5

p.M1L

c.1A>C