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.Q213*

c.637C>T

Surrounding Variants

1 paper

NM_006849.4

p.L210_F211ins4

c.628_632ins12

1 paper

NM_006849.4

p.R209W

c.625C>T

2 papers

NM_006849.4

p.R207Q

c.620G>A

1 paper

NM_006849.4

p.T205K

c.614C>A

1 paper

NM_006849.4

p.V221delFs

c.661delG

1 paper

NM_006849.4

p.V221M

c.661G>A

1 paper

NM_006849.4

p.V221E

c.662T>A

1 paper

NM_006849.4

p.L223P

c.668T>C

1 paper

NM_006849.4

p.T201S

c.601A>T

1 paper

NM_006849.4

p.K226K

c.678G>A

1 paper

NM_006849.4

p.D196E

c.588C>A

1 paper

NM_006849.4

p.D196E

c.588C>G