Varaico: Literature-Extracted Genetic Variants

Gene:NXN
Variant:p.E412del1

NXN

48 papers

RefSeq Summary

This gene encodes a member of the thioredoxin superfamily, a group of small, multifunctional redox-active proteins. Members of this family are characterized by a conserved active motif called the thio...

Pfam Domains

Thioredoxin_8aa 30–145UCSCThioredoxin-like
Thioredoxin_8aa 30–145UCSCThioredoxin-like
Thioredoxin_8aa 193–287UCSCThioredoxin-like
Thioredoxin_8aa 193–287UCSCThioredoxin-like
Thioredoxin_6aa 264–424UCSCThioredoxin-like domain

Gene Aliases

HGNC Name

nucleoredoxin

HGNC Alias Symbols

FLJ12614; NRX

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_022463.5
p.E412del1
c.1234_1236delCTC
Surrounding Variants
1 paper
NM_022463.5
p.R403Q
c.1208G>A
1 paper
NM_022463.5
p.D399Y
c.1195G>T
1 paper
NM_022463.5
p.P434delins
c.1301_1302delinsTT
1 paper
NM_022463.5
p.P350L
c.1049C>T
1 paper
NM_022463.5
p.E295A
c.884A>C
1 paper
NM_022463.5
p.E286_Q291del6
c.856_872del18
1 paper
NM_022463.5
p.T289T
c.867G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."