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.N267K

c.801C>G

Surrounding Variants

1 paper

NM_004911.5

p.N267K

c.801C>A

1 paper

NM_004911.5

p.G274Splc

c.820+1G>A

1 paper

NM_004911.5

p.F258I

c.772T>A

1 paper

NM_004911.5

p.T254insFs

c.760_761insA

1 paper

NM_004911.5

p.I230M

c.690T>G

1 paper

NM_004911.5

p.A219D

c.656C>A

1 paper

NM_004911.5

p.I275M

c.825C>G

1 paper

NM_004911.5

p.E281D

c.843G>T

1 paper

NM_004911.5

p.E281D

c.843G>C

1 paper

NM_004911.5

p.Q282*

c.844C>T

1 paper

NM_004911.5

p.Q282L

c.845A>T

1 paper

NM_004911.5

p.E289D

c.867G>T