Varaico: Literature-Extracted Genetic Variants

Gene:NXNL1
Variant:p.M94I

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.M94I
c.282G>A
Surrounding Variants
1 paper
NM_138454.2
p.M94I
c.282G>T
1 paper
NM_138454.2
p.M94I
c.282G>C
1 paper
NM_138454.2
p.K92R
c.275A>G
1 paper
NM_138454.2
p.L99V
c.295C>G
1 paper
NM_138454.2
p.F100F
c.300C>T
1 paper
NM_138454.2
p.T83M
c.248C>T
1 paper
NM_138454.2
p.S79S
c.237C>A
1 paper
NM_138454.2
p.A70V
c.209C>T
1 paper
NM_138454.2
p.R69W
c.205C>T
1 paper
NM_138454.2
p.F65L
c.195C>G
1 paper
NM_138454.2
p.F65L
c.195C>A
1 paper
NM_138454.2
p.F65L
c.193T>C
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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."