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.C220*

c.660C>A

Surrounding Variants

2 papers

NM_030810.5

p.C220delFs

c.660delG

1 paper

NM_030810.5

p.K221R

c.662A>G

1 paper

NM_030810.5

p.A224G

c.671C>G

1 paper

NM_030810.5

p.W227C

c.681G>T

1 paper

NM_030810.5

p.W227C

c.681G>C

1 paper

NM_030810.5

p.A231T

c.691G>A

1 paper

NM_030810.5

p.F209V

c.625T>G

1 paper

NM_030810.5

p.K244R

c.731A>G

1 paper

NM_030810.5

p.H250Y

c.748C>T

1 paper

NM_030810.5

p.Y251C

c.752A>G

1 paper

NM_030810.5

p.V259I

c.775G>A

1 paper

NM_030810.5

p.R269*

c.805C>T