Varaico: Literature-Extracted Genetic Variants

Gene:TXNDC12
Variant:p.G54delFs

TXNDC12

23 papers

RefSeq Summary

This gene encodes a member of the thioredoxin superfamily. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and ...

Pfam Domains

Thioredoxin_7aa 39–120UCSCThioredoxin-like

Gene Aliases

HGNC Name

thioredoxin domain containing 12

HGNC Alias Symbols

TLP19; ERP18; ERP19; hAG-1; AGR1; PDIA16

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015913.4
p.G54delFs
c.161delC
Surrounding Variants
1 paper
NM_015913.4
p.K63K
c.189A>G
1 paper
NM_015913.4
p.W65C
c.195G>T
1 paper
NM_015913.4
p.W65C
c.195G>C
1 paper
NM_015913.4
p.C66S
c.196T>A
1 paper
NM_015913.4
p.C66S
c.197G>C
1 paper
NM_015913.4
p.C69S
c.205T>A
1 paper
NM_015913.4
p.C69S
c.206G>C
1 paper
NM_015913.4
p.T80M
c.239C>T
1 paper
NM_015913.4
p.I82M
c.246T>G
1 paper
NM_015913.4
p.S86F
c.257C>T
1 paper
NM_015913.4
p.M91I
c.273G>T
1 paper
NM_015913.4
p.M91I
c.273G>C
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