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

1–12 of 57 variants

2 papers

NM_006810.4

p.L66S

c.197T>C

2 papers

NM_006810.4

p.T354M

c.1061C>T

2 papers

NM_006810.4

p.T391M

c.1172C>T

1 paper

NM_006810.4

p.D35delFs

c.104_105delAC

1 paper

NM_006810.4

p.K41R

c.122A>G

1 paper

NM_006810.4

p.R46Q

c.137G>A

1 paper

NM_006810.4

p.A59G

c.176C>G

1 paper

NM_006810.4

p.S68_Q72delFs

c.204_214del11

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.K104_D105del2

c.310_314del6