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.H401L

c.1202A>T

Surrounding Variants

2 papers

NM_006810.4

p.T391M

c.1172C>T

1 paper

NM_006810.4

p.P386fs

c.1156_1157fs

1 paper

NM_006810.4

p.P385S

c.1153C>T

1 paper

NM_006810.4

p.A384insFs

c.1151dupC

1 paper

NM_006810.4

p.A384fs

c.1150_1151fs

1 paper

NM_006810.4

p.A423T

c.1267G>A

1 paper

NM_006810.4

p.W425L

c.1274G>T

1 paper

NM_006810.4

p.Q380*

c.1138C>T

1 paper

NM_006810.4

p.L369F

c.1105C>T

1 paper

NM_006810.4

p.N360I

c.1079A>T

2 papers

NM_006810.4

p.T354M

c.1061C>T

1 paper

NM_006810.4

p.A344E

c.1031C>A