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.L148F

c.444G>C

Surrounding Variants

1 paper

NM_174924.2

p.L148F

c.444G>T

1 paper

NM_174924.2

p.L148V

c.442T>G

1 paper

NM_174924.2

p.V146I

c.436G>A

1 paper

NM_174924.2

p.S141P

c.421T>C

1 paper

NM_174924.2

p.K196R

c.587A>G

1 paper

NM_174924.2

p.T202T

c.606G>A

1 paper

NM_174924.2

p.T207M

c.620C>T

1 paper

NM_174924.2

p.I208N

c.623T>A

1 paper

NM_174924.2

p.G209G

c.627C>T

2 papers

NM_174924.2

p.R214C

c.640C>T

1 paper

NM_174924.2

p.S221C

c.661A>T

1 paper

NM_174924.2

p.R233L

c.698G>T