Varaico: Literature-Extracted Genetic Variants

PDIA6

82 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 26–129UCSCThioredoxin

Thioredoxinaa 161–267UCSCThioredoxin

Thioredox_PDIA6_Caa 270–393UCSCPDIA6-like, C-terminal thioredoxin-like domain

Gene Aliases

HGNC Name

protein disulfide isomerase family A member 6

HGNC Previous Symbol

TXNDC7

Papers

RefSeq ID

Protein change

DNA change

1–12 of 83 variants

4 papers

NM_005742.4

p.K214R

c.641A>G

3 papers

NM_005742.4

p.I305V

c.913A>G

2 papers

NM_005742.4

p.E49K

c.145G>A

2 papers

NM_005742.4

p.D171G

c.512A>G

2 papers

NM_001282704.2

p.V235fs

c.703_704fs

2 papers

NM_005742.4

p.A300delFs

c.898delC

2 papers

NM_005742.4

p.Y316insFs

c.947dupA

2 papers

NM_005742.4

p.Y316*

c.948T>G

2 papers

NM_005742.4

p.Y316*

c.948T>A

1 paper

NM_001282705.2

p.R13*

c.37C>T

1 paper

NM_001282704.2

p.S51*

c.152C>G

1 paper

NM_001282704.2

p.S51*

c.152C>A