Varaico: Literature-Extracted Genetic Variants

PDIA4

74 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 63–166UCSCThioredoxin

Thioredoxinaa 178–281UCSCThioredoxin

Thioredoxin_6aa 312–505UCSCThioredoxin-like domain

Thioredoxinaa 527–634UCSCThioredoxin

Gene Aliases

HGNC Name

protein disulfide isomerase family A member 4

HGNC Alias Symbols

ERP70; ERP72

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004911.5

p.E46_E47del1

c.138_140delTCC

Surrounding Variants

1 paper

NM_004911.5

p.E47del1

c.139_140delTTC

1 paper

NM_004911.5

p.D54H

c.160G>C

1 paper

NM_004911.5

p.E39G

c.116A>G

1 paper

NM_004911.5

p.D69N

c.205G>A

1 paper

NM_004911.5

p.N68_F72delFs

c.204_214del11

1 paper

NM_004911.5

p.K79E

c.235A>G

1 paper

NM_004911.5

p.P99L

c.296C>T

1 paper

NM_004911.5

p.E102Q

c.304G>C

1 paper

NM_004911.5

p.I107V

c.319A>G

1 paper

NM_004911.5

p.A125V

c.374C>T

1 paper

NM_004911.5

p.R131K

c.392G>A

1 paper

NM_004911.5

p.P138H

c.413C>A