Varaico: Literature-Extracted Genetic Variants

Gene:NUP43
Variant:p.I4I

NUP43

198 papers

RefSeq Summary

Bidirectional transport of macromolecules between the cytoplasm and nucleus occurs through nuclear pore complexes (NPCs) embedded in the nuclear envelope. NPCs are composed of subcomplexes, and NUP43 ...

Pfam Domains

WD40aa 207–246UCSCWD domain, G-beta repeat
WD40aa 251–290UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

nucleoporin 43

HGNC Alias Symbols

bA350J20.1; FLJ13287

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_198887.3
p.I4I
c.12T>A
Surrounding Variants
1 paper
NM_198887.3
p.Y5N
c.13T>A
1 paper
NM_198887.3
p.M1insFs
c.3dupG
1 paper
NM_198887.3
p.M1delFs
c.2delA
1 paper
NM_198887.3
p.M1T
c.2T>C
1 paper
NM_198887.3
p.F8S
c.23T>C
1 paper
NM_198887.3
p.M1L
c.1A>T
2 papers
NM_198887.3
p.M1V
c.1A>G
1 paper
NM_198887.3
p.M1L
c.1A>C
1 paper
NM_198887.3
p.V9E
c.26T>A
1 paper
NM_198887.3
p.I13insFs
c.38_39insG
1 paper
NM_198887.3
p.R17R
c.51C>A
1 paper
NM_198887.3
p.R19R
c.57A>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."