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

1–12 of 183 variants

6 papers

NM_006849.4

p.P19Q

c.56C>A

6 papers

NM_006849.4

p.Q195*

c.583C>T

4 papers

NM_006849.4

p.T119R

c.356C>G

4 papers

NM_006849.4

p.R128C

c.382C>T

4 papers

NM_006849.4

p.L464delFs

c.1391_1392delTC

4 papers

NM_006849.4

p.R473Q

c.1418G>A

4 papers

NM_006849.4

p.D492_N493insFs

c.1476_1477insA

4 papers

NM_006849.4

p.P502S

c.1504C>T

3 papers

NM_006849.4

p.R148*

c.442C>T

3 papers

NM_006849.4

p.P382A

c.1144C>G

3 papers

NM_006849.4

p.T481S

c.1441A>T

3 papers

NM_006849.4

p.T481S

c.1442C>G