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

Selected Variant

1 paper

NM_001282704.2

p.S51*

c.152C>G

Surrounding Variants

1 paper

NM_001282704.2

p.S51*

c.152C>A

1 paper

NM_005742.4

p.M1I

c.3G>T

1 paper

NM_005742.4

p.M1I

c.3G>C

1 paper

NM_005742.4

p.M1I

c.3G>A