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.T392N

c.1175C>A

Surrounding Variants

1 paper

NM_006849.4

p.K391E

c.1171A>G

2 papers

NM_006849.4

p.R388Q

c.1163G>A

1 paper

NM_006849.4

p.P383R

c.1148C>G

1 paper

NM_006849.4

p.P383delFs

c.1148_1149delCT

3 papers

NM_006849.4

p.P382A

c.1144C>G

1 paper

NM_006849.4

p.Y414C

c.1241A>G

1 paper

NM_006849.4

p.P416T

c.1246C>A

1 paper

NM_006849.4

p.P416S

c.1246C>T

1 paper

NM_006849.4

p.A430T

c.1288G>A

1 paper

NM_006849.4

p.E439K

c.1315G>A

1 paper

NM_006849.4

p.A444P

c.1330G>C

1 paper

NM_006849.4

p.T449R

c.1346C>G