Varaico: Literature-Extracted Genetic Variants

Gene:NUP62
Variant:p.D405D

NUP62

841 papers

RefSeq Summary

The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporin...

Pfam Domains

Nsp1_Caa 317–429UCSCNsp1-like C-terminal region

Gene Aliases

HGNC Name

nucleoporin 62

HGNC Alias Symbols

p62; DKFZp547L134; IBSN; SNDI; MGC841; FLJ20822; FLJ43869

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_016553.5
p.D405D
c.1215C>T
Surrounding Variants
1 paper
NM_016553.5
p.D405delFs
c.1215delG
1 paper
NM_016553.5
p.L407L
c.1221G>A
1 paper
NM_016553.5
p.S408_P409insFs
c.1224_1225insT
1 paper
NM_016553.5
p.D405_P409del5
c.1213_1226del15
1 paper
NM_016553.5
p.L410R
c.1229T>G
1 paper
NM_016553.5
p.K401E
c.1201A>G
1 paper
NM_016553.5
p.K401Q
c.1201A>C
1 paper
NM_016553.5
p.E411K
c.1231G>A
1 paper
NM_016553.5
p.Q400*
c.1198C>T
1 paper
NM_016553.5
p.E411D
c.1233G>T
1 paper
NM_016553.5
p.E411D
c.1233G>C
2 papers
NM_016553.5
p.E412G
c.1235A>G
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