Varaico: Literature-Extracted Genetic Variants

PDIA2

323 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 44–149UCSCThioredoxin

Thioredoxin_6aa 179–366UCSCThioredoxin-like domain

Thioredoxinaa 389–493UCSCThioredoxin

Gene Aliases

HGNC Name

protein disulfide isomerase family A member 2

HGNC Previous Symbol

PDIP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006849.4

p.A455D

c.1364C>A

Surrounding Variants

1 paper

NM_006849.4

p.F456F

c.1368C>T

1 paper

NM_006849.4

p.T449R

c.1346C>G

1 paper

NM_006849.4

p.T463fs

c.1387_1388fs

4 papers

NM_006849.4

p.L464delFs

c.1391_1392delTC

1 paper

NM_006849.4

p.T463delFs

c.1389delT

1 paper

NM_006849.4

p.L464fs

c.1390_1391fs

1 paper

NM_006849.4

p.A444P

c.1330G>C

2 papers

NM_006849.4

p.P468L

c.1403C>T

1 paper

NM_006849.4

p.E439K

c.1315G>A

1 paper

NM_006849.4

p.R473R

c.1417C>A

4 papers

NM_006849.4

p.R473Q

c.1418G>A

1 paper

NM_006849.4

p.K474_V475Splc

c.1422+5G>A