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

2 papers

NM_001282704.2

p.V235delFs

c.703delC

NM_005742.4

p.V183delFs

c.547delC

Surrounding Variants

3 papers

NM_001282704.2

p.V235fs

c.703_704fs

NM_005742.4

p.V183fs

c.547_548fs

1 paper

NM_005742.4

p.C190S

c.569G>C

1 paper

NM_005742.4

p.L175P

c.524T>C

2 papers

NM_005742.4

p.D171G

c.512A>G

1 paper

NM_005742.4

p.D168N

c.502G>A

1 paper

NM_005742.4

p.D167N

c.499G>A

1 paper

NM_005742.4

p.P198T

c.592C>A

1 paper

NM_005742.4

p.K208E

c.622A>G

4 papers

NM_005742.4

p.K214R

c.641A>G

1 paper

NM_005742.4

p.L217L

c.651G>A

1 paper

NM_005742.4

p.V220M

c.658G>A

1 paper

NM_005742.4

p.G233E

c.698G>A