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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GLRX3

GLRX3

50 papers

RefSeq Summary

This gene encodes a member of the glutaredoxin family. Glutaredoxins are oxidoreductase enzymes that reduce a variety of substrates using glutathione as a cofactor. The encoded protein binds to and mo...

Pfam Domains

Thioredoxinaa 13–114UCSCThioredoxin

Glutaredoxinaa 146–210UCSCGlutaredoxin

Glutaredoxinaa 248–312UCSCGlutaredoxin

Gene Aliases

HGNC Name

glutaredoxin 3

HGNC Previous Symbol

TXNL2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 47 variants

5 papers

chr10:130160886 C>T

NM_006541.5

p.P123S

c.367C>T

Exome: 25.2% (AC=366647, hom=48139)Genome: 21.6% (AC=32824, hom=3873)2 overlapping SVs

3 papers

chr10:130145269 G>A

NM_006541.5

p.E51K

c.151G>A

Thioredoxin

Exome: 0.0% (AC=15, hom=0)Genome: 0.0% (AC=1, hom=0)2 overlapping SVs

2 papers

chr10:130136483 G>C

NM_006541.5

p.Q21H

c.63G>C

Thioredoxin

Exome: 19.6% (AC=218844, hom=22165)Genome: 17.6% (AC=26749, hom=2526)4 overlapping SVs

2 papers

chr10:130136483 G>T

NM_006541.5

p.Q21H

c.63G>T

Thioredoxin

Exome: 0.0% (AC=1, hom=0)Genome: n/a4 overlapping SVs

2 papers

chr10:130160952 C>G

NM_006541.5

p.P145A

c.433C>G

Exome: n/aGenome: 0.0% (AC=1, hom=0)2 overlapping SVs

1 paper

chr10:130136421 A>AN

NM_006541.5

p.M1fs

c.1_2fs

exact variant not in gnomAD4 overlapping SVs

1 paper

chr10:130136421 A>C

NM_006541.5

p.M1L

c.1A>C

exact variant not in gnomAD4 overlapping SVs

1 paper

chr10:130136421 A>T

NM_006541.5

p.M1L

c.1A>T

exact variant not in gnomAD4 overlapping SVs

1 paper

chr10:130136451 G>A

NM_006541.5

p.A11T

c.31G>A

Exome: 0.0% (AC=24, hom=0)Genome: 0.0% (AC=13, hom=0)4 overlapping SVs

1 paper

chr10:130136509 C>A

NM_006541.5

p.A30D

c.89C>A

Thioredoxin

Exome: 0.0% (AC=1, hom=0)Genome: n/a4 overlapping SVs

1 paper

chr10:130142521 A>G

NM_006541.5

p.K31Splc

c.93-2690A>G

Exome: n/aGenome: 0.0% (AC=1, hom=0)2 overlapping SVs

1 paper

chr10:130145290 A>G

NM_006541.5

p.K58E

c.172A>G

Thioredoxin

Exome: 0.0% (AC=4, hom=0)Genome: n/a2 overlapping SVs

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