Varaico: Literature-Extracted Genetic Variants

PDIA5

60 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 153–258UCSCThioredoxin

Thioredoxinaa 277–381UCSCThioredoxin

Thioredoxinaa 398–503UCSCThioredoxin

Gene Aliases

HGNC Name

protein disulfide isomerase family A member 5

HGNC Alias Symbols

PDIR; FLJ30401

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006810.4

p.Q241H

c.723G>T

Surrounding Variants

1 paper

NM_006810.4

p.Q241H

c.723G>C

1 paper

NM_006810.4

p.Y245*

c.735T>A

1 paper

NM_006810.4

p.Y245*

c.735T>G

1 paper

NM_006810.4

p.R237L

c.710G>T

1 paper

NM_006810.4

p.R237W

c.709C>T

1 paper

NM_006810.4

p.V224M

c.670G>A

1 paper

NM_006810.4

p.M208I

c.624G>A

1 paper

NM_006810.4

p.M208I

c.624G>C

1 paper

NM_006810.4

p.M208I

c.624G>T

1 paper

NM_006810.4

p.S294F

c.881C>T

1 paper

NM_006810.4

p.H301Q

c.903C>A

1 paper

NM_006810.4

p.H301Q

c.903C>G