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.G140R

c.418G>C

Surrounding Variants

1 paper

NM_006810.4

p.G140R

c.418G>A

1 paper

NM_006810.4

p.P148S

c.442C>T

1 paper

NM_006810.4

p.S130P

c.388T>C

1 paper

NM_006810.4

p.K129E

c.385A>G

1 paper

NM_006810.4

p.D105N

c.313G>A

1 paper

NM_006810.4

p.K104_D105del2

c.310_314del6

1 paper

NM_006810.4

p.M97I

c.291G>A

1 paper

NM_006810.4

p.M97I

c.291G>C

1 paper

NM_006810.4

p.M97I

c.291G>T

1 paper

NM_006810.4

p.Q198E

c.592C>G

1 paper

NM_006810.4

p.A203A

c.609C>T