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.Y134*

c.402C>A

Surrounding Variants

1 paper

NM_006849.4

p.Y134delFs

c.400delT

1 paper

NM_006849.4

p.G136R

c.406G>A

1 paper

NM_006849.4

p.E133K

c.397G>A

2 papers

NM_006849.4

p.P131P

c.393G>C

2 papers

NM_006849.4

p.P131L

c.392C>T

1 paper

NM_006849.4

p.P131T

c.391C>A

4 papers

NM_006849.4

p.R128C

c.382C>T

1 paper

NM_006849.4

p.G126W

c.376G>T

1 paper

NM_006849.4

p.R124_N125delFs

c.372_375del4

4 papers

NM_006849.4

p.T119R

c.356C>G

1 paper

NM_006849.4

p.T119M

c.356C>T

2 papers

NM_006849.4

p.E116D

c.348G>C