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.R157W

c.469C>T

Surrounding Variants

1 paper

NM_006849.4

p.M156delFs

c.466delA

1 paper

NM_006849.4

p.D160N

c.478G>A

1 paper

NM_006849.4

p.V151L

c.451G>C

3 papers

NM_006849.4

p.R148*

c.442C>T

1 paper

NM_006849.4

p.E145K

c.433G>A

1 paper

NM_006849.4

p.A144T

c.430G>A

1 paper

NM_006849.4

p.I143T

c.428T>C

2 papers

NM_006849.4

p.D172Y

c.514G>T

1 paper

NM_006849.4

p.G177R

c.529G>C

1 paper

NM_006849.4

p.G177C

c.529G>T

2 papers

NM_006849.4

p.Q180_D181Splc

c.540+2T>G

1 paper

NM_006849.4

p.G136R

c.406G>A