Varaico: Literature-Extracted Genetic Variants

Gene:NXF2

NXF2

11 papers

RefSeq Summary

This gene encodes a member of a family of nuclear RNA export proteins. The encoded protein is associated with the nuclear envelope and aids in the export of mRNAs. There is a closely related paralog o...

Pfam Domains

Tap-RNA_bindaa 124–203UCSCTap, RNA-binding
Tap-RNA_bindaa 124–203UCSCTap, RNA-binding
NXF_NTF2aa 391–542UCSCNuclear RNA export factor, NTF2 domain
NXF_NTF2aa 391–542UCSCNuclear RNA export factor, NTF2 domain
TAP_Caa 574–622UCSCTAP C-terminal domain
TAP_Caa 574–622UCSCTAP C-terminal domain

Gene Aliases

HGNC Name

nuclear RNA export factor 2

HGNC Alias Symbols

CT39; TAPL-2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 14 variants
2 papers
NM_022053.4
p.N207Y
c.619A>T
2 papers
NM_022053.4
p.A619T
c.1855G>A
1 paper
NM_022053.4
p.R53H
c.158G>A
1 paper
NM_022053.4
p.R87I
c.260G>T
1 paper
NM_022053.4
p.K111N
c.333A>C
1 paper
NM_022053.4
p.K111N
c.333A>T
1 paper
NM_022053.4
p.T200I
c.599C>T
1 paper
NM_022053.4
p.K210E
c.628A>G
1 paper
NM_022053.4
p.I265T
c.794T>C
1 paper
NM_022053.4
p.S436N
c.1307G>A
1 paper
NM_022053.4
p.Y454H
c.1360T>C
1 paper
NM_022053.4
p.C593C
c.1779C>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."