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_005742.4

p.E29K

c.85G>A

Surrounding Variants

1 paper

NM_005742.4

p.I28V

c.82A>G

1 paper

NM_005742.4

p.S24R

c.70A>C

1 paper

NM_005742.4

p.R37R

c.109C>A

1 paper

NM_005742.4

p.N18I

c.53A>T

1 paper

NM_005742.4

p.F13F

c.39C>T

1 paper

NM_005742.4

p.L47V

c.139C>G

2 papers

NM_005742.4

p.E49K

c.145G>A

1 paper

NM_005742.4

p.V9M

c.25G>A

1 paper

NM_005742.4

p.A52D

c.155C>A

1 paper

NM_005742.4

p.W54delFs

c.161delC

1 paper

NM_005742.4

p.C58Y

c.173G>A

1 paper

NM_005742.4

p.K66T

c.197A>C