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.G97R

c.289G>A

Surrounding Variants

1 paper

NM_005742.4

p.K108fs

c.322_323fs

1 paper

NM_005742.4

p.A68_L72delFs

c.204_214del11

1 paper

NM_005742.4

p.A69T

c.205G>A

1 paper

NM_005742.4

p.K66T

c.197A>C

1 paper

NM_005742.4

p.C58Y

c.173G>A

1 paper

NM_005742.4

p.G141*

c.421G>T

1 paper

NM_005742.4

p.R142P

c.425G>C

1 paper

NM_005742.4

p.G144R

c.430G>C

1 paper

NM_005742.4

p.G144R

c.430G>A

1 paper

NM_005742.4

p.D167N

c.499G>A

1 paper

NM_005742.4

p.D168N

c.502G>A

2 papers

NM_005742.4

p.D171G

c.512A>G