Varaico: Literature-Extracted Genetic Variants

Gene:NXN
Variant:p.R209*

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
3 papers
NM_022463.5
p.R209*
c.625C>T
Surrounding Variants
1 paper
NM_022463.5
p.C208F
c.623G>T
1 paper
NM_022463.5
p.C208S
c.623G>C
1 paper
NM_022463.5
p.C208S
c.622T>A
1 paper
NM_022463.5
p.S210C
c.628A>T
1 paper
NM_022463.5
p.C205S
c.614G>C
1 paper
NM_022463.5
p.C205S
c.613T>A
1 paper
NM_022463.5
p.R213Q
c.638G>A
1 paper
NM_022463.5
p.S235T
c.704G>C
1 paper
NM_022463.5
p.D237E
c.711C>G
1 paper
NM_022463.5
p.D237E
c.711C>A
1 paper
NM_022463.5
p.E192Q
c.574G>C
1 paper
NM_022463.5
p.K168T
c.503A>C
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