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.G309Splc

c.925+5G>T

Surrounding Variants

1 paper

NM_005742.4

p.I305I

c.915C>T

3 papers

NM_005742.4

p.I305V

c.913A>G

1 paper

NM_005742.4

p.H304Y

c.910C>T

1 paper

NM_005742.4

p.V301G

c.902T>G

1 paper

NM_005742.4

p.A300fs

c.898_899fs

2 papers

NM_005742.4

p.A300delFs

c.898delC

1 paper

NM_005742.4

p.A300T

c.898G>A

1 paper

NM_005742.4

p.E293E

c.879G>A

1 paper

NM_005742.4

p.T290M

c.869C>T

1 paper

NM_005742.4

p.E284K

c.850G>A

1 paper

NM_005742.4

p.N283D

c.847A>G

1 paper

NM_005742.4

p.G309A

c.926G>C