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

1–12 of 59 variants

6 papers

NM_030810.5

p.L26del1

c.76_78delCAG

4 papers

NM_030810.5

p.Q76_A78del3

c.226_233del9

3 papers

NM_030810.5

p.L9delFs

c.26delA

2 papers

NM_030810.5

p.P49S

c.145C>T

2 papers

NM_030810.5

p.C220*

c.660C>A

2 papers

NM_030810.5

p.C220delFs

c.660delG

2 papers

NM_030810.5

p.R281W

c.841C>T

1 paper

NM_030810.5

p.R7C

c.19C>T

1 paper

NM_030810.5

p.P10S

c.28C>T

1 paper

NM_030810.5

p.G31G

c.93C>G

1 paper

NM_030810.5

p.R33fs

c.97_98fs

1 paper

NM_030810.5

p.Q39R

c.116A>G