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

1 paper

NM_174924.2

p.M1R

c.2T>G

Surrounding Variants

1 paper

NM_174924.2

p.M6V

c.16A>G

1 paper

NM_174924.2

p.A26T

c.76G>A

1 paper

NM_174924.2

p.S29Y

c.86C>A

1 paper

NM_174924.2

p.A51D

c.152C>A

1 paper

NM_174924.2

p.G52D

c.155G>A

1 paper

NM_174924.2

p.Q59K

c.175C>A

1 paper

NM_174924.2

p.T60S

c.178A>T

1 paper

NM_174924.2

p.T60S

c.179C>G