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.N493K

c.1479C>A

Surrounding Variants

1 paper

NM_006849.4

p.N493K

c.1479C>G

1 paper

NM_006849.4

p.N493N

c.1479C>T

1 paper

NM_006849.4

p.N493fs

c.1477_1478fs

2 papers

NM_006849.4

p.N493fs

c.1477_1478fs

4 papers

NM_006849.4

p.D492_N493insFs

c.1476_1477insA

1 paper

NM_006849.4

p.D492fs

c.1474_1475fs

1 paper

NM_006849.4

p.V496M

c.1486G>A

1 paper

NM_006849.4

p.K489T

c.1466A>C

1 paper

NM_006849.4

p.S488S

c.1464C>G

1 paper

NM_006849.4

p.F487S

c.1460T>C

4 papers

NM_006849.4

p.P502S

c.1504C>T

1 paper

NM_006849.4

p.R482K

c.1445G>A