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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NXNL1

Variant:p.E64K

NXNL1

40 papers

RefSeq Summary

Retinitis pigmentosa (RP) is a disease that leads to blindness by degeneration of cone photoreceptors. Rods produce factors required for cone viability. The protein encoded by this gene is one of thos...

Pfam Domains

Thioredoxin_8aa 32–132UCSCThioredoxin-like

Gene Aliases

HGNC Name

nucleoredoxin like 1

HGNC Previous Symbol

TXNL6

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

3 papers

chr19:17460680 C>T

NM_138454.2

p.E64K

c.190G>A

Thioredoxin_8

Exome: 0.3% (AC=4525, hom=18)Genome: 0.2% (AC=263, hom=1)12 overlapping SVs

Surrounding Variants

1 paper

chr19:17460677 A>G

NM_138454.2

p.F65L

c.193T>C

Thioredoxin_8

exact variant not in gnomAD12 overlapping SVs

1 paper

chr19:17460675 G>C

NM_138454.2

p.F65L

c.195C>G

Thioredoxin_8

exact variant not in gnomAD12 overlapping SVs

1 paper

chr19:17460675 G>T

NM_138454.2

p.F65L

c.195C>A

Thioredoxin_8

exact variant not in gnomAD12 overlapping SVs

1 paper

chr19:17460695 CGAA>C

NM_138454.2

p.F58del1

c.172_174delGAA

Thioredoxin_8

Exome: 0.0% (AC=110, hom=0)Genome: 0.0% (AC=9, hom=0)12 overlapping SVs

1 paper

chr19:17460665 G>A

NM_138454.2

p.R69W

c.205C>T

Thioredoxin_8

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=3, hom=0)12 overlapping SVs

1 paper

chr19:17460661 G>A

NM_138454.2

p.A70V

c.209C>T

Thioredoxin_8

Exome: 0.0% (AC=45, hom=0)Genome: 0.0% (AC=2, hom=0)12 overlapping SVs

1 paper

chr19:17460633 G>T

NM_138454.2

p.S79S

c.237C>A

Thioredoxin_8

Exome: 0.0% (AC=171, hom=1)Genome: 0.0% (AC=42, hom=0)12 overlapping SVs

1 paper

chr19:17460622 G>A

NM_138454.2

p.T83M

c.248C>T

Thioredoxin_8

Exome: 0.0% (AC=84, hom=0)Genome: 0.0% (AC=5, hom=0)12 overlapping SVs

1 paper

chr19:17460595 T>C

NM_138454.2

p.K92R

c.275A>G

Thioredoxin_8

Exome: 0.0% (AC=419, hom=3)Genome: 0.0% (AC=28, hom=0)12 overlapping SVs

1 paper

chr19:17460766 A>C

NM_138454.2

p.V35G

c.104T>G

Thioredoxin_8

Exome: 0.0% (AC=23, hom=0)Genome: 0.0% (AC=0, hom=0)12 overlapping SVs

1 paper

chr19:17460588 C>A

NM_138454.2

p.M94I

c.282G>T

Thioredoxin_8

Exome: 0.1% (AC=1049, hom=2)Genome: 0.1% (AC=82, hom=0)12 overlapping SVs

1 paper

chr19:17460772 C>A

NM_138454.2

p.R33L

c.98G>T

Thioredoxin_8

exact variant not in gnomAD12 overlapping SVs

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