Varaico: Literature-Extracted Genetic Variants

Gene:NXNL1
Variant:p.V35G

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.V35G
c.104T>G
Surrounding Variants
1 paper
NM_138454.2
p.R33L
c.98G>T
1 paper
NM_138454.2
p.R33W
c.97C>T
1 paper
NM_138454.2
p.R28P
c.83G>C
1 paper
NM_138454.2
p.D18N
c.52G>A
3 papers
NM_138454.2
p.D16N
c.46G>A
1 paper
NM_138454.2
p.R12C
c.34C>T
1 paper
NM_138454.2
p.F58del1
c.172_174delGAA
3 papers
NM_138454.2
p.E64K
c.190G>A
1 paper
NM_138454.2
p.F65L
c.193T>C
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.R69W
c.205C>T
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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."