Varaico: Literature-Extracted Genetic Variants

PDIA2

323 papers

RefSeq Summary

This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein h...

Pfam Domains

Thioredoxinaa 44–149UCSCThioredoxin

Thioredoxin_6aa 179–366UCSCThioredoxin-like domain

Thioredoxinaa 389–493UCSCThioredoxin

Gene Aliases

HGNC Name

protein disulfide isomerase family A member 2

HGNC Previous Symbol

PDIP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006849.4

p.S30*

c.89C>A

Surrounding Variants

1 paper

NM_006849.4

p.S30_E31insFs

c.90_91insG

1 paper

NM_006849.4

p.P29H

c.86C>A

2 papers

NM_006849.4

p.E31E

c.93G>A

1 paper

NM_006849.4

p.S28G

c.82A>G

1 paper

NM_006849.4

p.P33delFs

c.97delC

1 paper

NM_006849.4

p.P34_E35insFs

c.102_103insA

2 papers

NM_006849.4

p.A26V

c.77C>T

1 paper

NM_006849.4

p.E35V

c.104A>T

1 paper

NM_006849.4

p.Q24K

c.70C>A

1 paper

NM_006849.4

p.I38V

c.112A>G

1 paper

NM_006849.4

p.Q22Q

c.66G>A

1 paper

NM_006849.4

p.Q22*

c.64C>T