Varaico: Literature-Extracted Genetic Variants

Gene:NAE1
Variant:p.D208G

NAE1

56 papers

RefSeq Summary

The protein encoded by this gene binds to the beta-amyloid precursor protein. Beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a r...

Pfam Domains

ThiFaa 13–534UCSCThiF family

Gene Aliases

HGNC Name

NEDD8 activating enzyme E1 subunit 1

HGNC Previous Symbol

APPBP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003905.4
p.D208G
c.623A>G
Surrounding Variants
1 paper
NM_003905.4
p.V216L
c.646G>T
1 paper
NM_003905.4
p.Y221H
c.661T>C
1 paper
NM_003905.4
p.G231insFs
c.692_693insT
1 paper
NM_003905.4
p.G231_R232insFs
c.693_694insG
1 paper
NM_003905.4
p.R232Q
c.695G>A
1 paper
NM_003905.4
p.Y237N
c.709T>A
1 paper
NM_003905.4
p.K238Q
c.712A>C
1 paper
NM_003905.4
p.K238R
c.713A>G
1 paper
NM_003905.4
p.D242A
c.725A>C
1 paper
NM_003905.4
p.P259fs
c.775_776fs
1 paper
NM_003905.4
p.E205K
c.613G>A
1 paper
NM_003905.4
p.H195Q
c.585T>G
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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."