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.N213K

c.639C>A

Surrounding Variants

1 paper

NM_005313.5

p.N213K

c.639C>G

3 papers

NM_005313.5

p.D217N

c.649G>A

1 paper

NM_005313.5

p.D217A

c.650A>C

1 paper

NM_005313.5

p.K218N

c.654G>T

1 paper

NM_005313.5

p.V220A

c.659T>C

1 paper

NM_005313.5

p.F206delFs

c.616delT

1 paper

NM_005313.5

p.I203M

c.609C>G

1 paper

NM_005313.5

p.I232N

c.695T>A

1 paper

NM_005313.5

p.E238G

c.713A>G

1 paper

NM_005313.5

p.P245A

c.733C>G

1 paper

NM_005313.5

p.V267A

c.800T>C

1 paper

NM_005313.5

p.D268H

c.802G>C