Varaico: Literature-Extracted Genetic Variants

Gene:NUP62
Variant:p.R377H

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.R377H
c.1130G>A
Surrounding Variants
1 paper
NM_016553.5
p.L384L
c.1150C>T
1 paper
NM_016553.5
p.L384P
c.1151T>C
1 paper
NM_016553.5
p.D385H
c.1153G>C
1 paper
NM_016553.5
p.E367K
c.1099G>A
1 paper
NM_016553.5
p.L389L
c.1165C>T
9 papers
NM_016553.5
p.Q391P
c.1172A>C
2 papers
NM_016553.5
p.D362A
c.1085A>C
1 paper
NM_016553.5
p.A360_W361delFs
c.1079_1083del5
1 paper
NM_016553.5
p.A360P
c.1078G>C
1 paper
NM_016553.5
p.D394D
c.1182C>T
1 paper
NM_016553.5
p.V358G
c.1073T>G
1 paper
NM_016553.5
p.I396delFs
c.1188delG
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