Varaico: Literature-Extracted Genetic Variants

Gene:NUP205
Variant:p.L439R

NUP205

124 papers

RefSeq Summary

This gene encodes a nucleoporin, which is a subunit of the nuclear pore complex that functions in active transport of proteins, RNAs and ribonucleoprotein particles between the nucleus and cytoplasm. ...

Pfam Domains

Nup192aa 14–1684UCSCNuclear pore complex scaffold, nucleoporins 186/192/205

Gene Aliases

HGNC Name

nucleoporin 205

HGNC Previous Symbol

C7orf14

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015135.3
p.L439R
c.1316T>G
Surrounding Variants
1 paper
NM_015135.3
p.E416G
c.1247A>G
1 paper
NM_015135.3
p.E448K
c.1342G>A
1 paper
NM_015135.3
p.E462K
c.1384G>A
1 paper
NM_015135.3
p.Y479C
c.1436A>G
1 paper
NM_015135.3
p.Q491L
c.1472A>T
1 paper
NM_015135.3
p.Q491_V492Splc
c.1474-1647C>T
2 papers
NM_015135.3
p.M373I
c.1119G>A
2 papers
NM_015135.3
p.M373I
c.1119G>C
2 papers
NM_015135.3
p.M373I
c.1119G>T
3 papers
NM_015135.3
p.M373T
c.1118T>C
1 paper
NM_015135.3
p.N367N
c.1101C>T
1 paper
NM_015135.3
p.A360_E361delFs
c.1079_1083del5
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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."