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

2 papers

NM_030810.5

p.R281W

c.841C>T

Surrounding Variants

1 paper

NM_030810.5

p.Q276H

c.828G>T

1 paper

NM_030810.5

p.Q276H

c.828G>C

1 paper

NM_030810.5

p.D275D

c.825T>C

1 paper

NM_030810.5

p.Q293R

c.878A>G

1 paper

NM_030810.5

p.E309G

c.926A>G

1 paper

NM_030810.5

p.R269*

c.805C>T

1 paper

NM_030810.5

p.V259I

c.775G>A

1 paper

NM_030810.5

p.Y251C

c.752A>G

1 paper

NM_030810.5

p.H250Y

c.748C>T

1 paper

NM_030810.5

p.K244R

c.731A>G

1 paper

NM_030810.5

p.G339R

c.1015G>C

1 paper

NM_030810.5

p.G339R

c.1015G>A