Varaico: Literature-Extracted Genetic Variants

Gene:NUP62
Variant:p.L344L

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
1 paper
NM_016553.5
p.L344L
c.1032A>G
Surrounding Variants
1 paper
NM_016553.5
p.L344delFs
c.1030delG
1 paper
NM_016553.5
p.W340_S341delFs
c.1020_1023del4
1 paper
NM_016553.5
p.Q347R
c.1040A>G
1 paper
NM_016553.5
p.Q347delFs
c.1040_1041delCT
1 paper
NM_016553.5
p.R349Q
c.1046G>A
1 paper
NM_016553.5
p.I337M
c.1011C>G
1 paper
NM_016553.5
p.L352P
c.1055T>C
1 paper
NM_016553.5
p.L336delFs
c.1007_1008delCA
1 paper
NM_016553.5
p.Q353*
c.1057C>T
1 paper
NM_016553.5
p.Q332*
c.994C>T
1 paper
NM_016553.5
p.V358G
c.1073T>G
1 paper
NM_016553.5
p.Y330C
c.989A>G
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