Varaico: Literature-Extracted Genetic Variants

PDILT

53 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 44–150UCSCThioredoxin

Thioredoxin_6aa 180–365UCSCThioredoxin-like domain

Thioredoxinaa 388–491UCSCThioredoxin

Gene Aliases

HGNC Name

protein disulfide isomerase like, testis expressed

HGNC Alias Symbol

PDIA7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_174924.2

p.P415S

c.1243C>T

Surrounding Variants

1 paper

NM_174924.2

p.S417F

c.1250C>T

1 paper

NM_174924.2

p.M422L

c.1264A>T

1 paper

NM_174924.2

p.M422L

c.1264A>C

1 paper

NM_174924.2

p.D446N

c.1336G>A

1 paper

NM_174924.2

p.R459W

c.1375C>T

1 paper

NM_174924.2

p.G484G

c.1452C>A

1 paper

NM_174924.2

p.D499delFs

c.1497delA

1 paper

NM_174924.2

p.V408I

c.1222G>A

1 paper

NM_174924.2

p.V401F

c.1201G>T

1 paper

NM_174924.2

p.V399L

c.1195G>C

1 paper

NM_174924.2

p.V399I

c.1195G>A

2 papers

NM_174924.2

p.E514D

c.1542G>T