Varaico: Literature-Extracted Genetic Variants

PDIA3

294 papers

RefSeq Summary

This gene encodes a protein of the endoplasmic reticulum that interacts with lectin chaperones calreticulin and calnexin to modulate folding of newly synthesized glycoproteins. The protein was once th...

Pfam Domains

Thioredoxinaa 26–130UCSCThioredoxin

Thioredoxin_6aa 160–355UCSCThioredoxin-like domain

Thioredoxinaa 377–482UCSCThioredoxin

Gene Aliases

HGNC Name

protein disulfide isomerase family A member 3

HGNC Previous Symbol

GRP58

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005313.5

p.K75_G76del2

c.223_227del6

Surrounding Variants

1 paper

NM_005313.5

p.R73delFs

c.218delG

1 paper

NM_005313.5

p.A71V

c.212C>T

1 paper

NM_005313.5

p.A70V

c.209C>T

1 paper

NM_005313.5

p.A70S

c.208G>T

1 paper

NM_005313.5

p.A69D

c.206C>A

2 papers

NM_005313.5

p.A69T

c.205G>A

1 paper

NM_005313.5

p.A69S

c.205G>T

1 paper

NM_005313.5

p.L80*

c.239T>A

1 paper

NM_005313.5

p.E68_T72delFs

c.204_214del11

1 paper

NM_005313.5

p.A81S

c.241G>T

1 paper

NM_005313.5

p.E66A

c.197A>C

1 paper

NM_005313.5

p.E66K

c.196G>A