Varaico: Literature-Extracted Genetic Variants

Gene:NXNL1
Variant:p.S176I

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
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138454.2
p.S176I
c.527G>T
Surrounding Variants
1 paper
NM_138454.2
p.R175_S176insFs
c.525_526ins7
2 papers
NM_138454.2
p.T178I
c.533C>T
1 paper
NM_138454.2
p.E173K
c.517G>A
1 paper
NM_138454.2
p.E167*
c.499G>T
1 paper
NM_138454.2
p.Q164*
c.490C>T
1 paper
NM_138454.2
p.N162S
c.485A>G
1 paper
NM_138454.2
p.A155A
c.465G>T
3 papers
NM_138454.2
p.E154V
c.461A>T
2 papers
NM_138454.2
p.E204G
c.611A>G
2 papers
NM_138454.2
p.E205G
c.614A>G
2 papers
NM_138454.2
p.A208fs
c.622_623fs
1 paper
NM_138454.2
p.G210fs
c.628_629fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."