Varaico: Literature-Extracted Genetic Variants

TXNDC5

56 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 62–166UCSCThioredoxin

Thioredoxinaa 190–292UCSCThioredoxin

Thioredoxinaa 323–426UCSCThioredoxin

Gene Aliases

HGNC Name

thioredoxin domain containing 5

HGNC Alias Symbols

MGC3178; FLJ21353; FLJ90810; EndoPDI; Hcc-2; ERp46; PDIA15

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_030810.5

p.G339R

c.1015G>A

Surrounding Variants

1 paper

NM_030810.5

p.G339R

c.1015G>C

1 paper

NM_030810.5

p.A372A

c.1116G>A

1 paper

NM_030810.5

p.Y396*

c.1188C>G

1 paper

NM_030810.5

p.Y396*

c.1188C>A

1 paper

NM_030810.5

p.L400*

c.1199T>A

1 paper

NM_030810.5

p.E309G

c.926A>G

1 paper

NM_030810.5

p.R403Q

c.1208G>A

1 paper

NM_030810.5

p.S409G

c.1225A>G

1 paper

NM_030810.5

p.E410G

c.1229A>G

1 paper

NM_030810.5

p.Q293R

c.878A>G

1 paper

NM_030810.5

p.R422H

c.1265G>A

2 papers

NM_030810.5

p.R281W

c.841C>T