Varaico: Literature-Extracted Genetic Variants

Gene:NAE1
Variant:p.Y13C

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.Y13C
c.38A>G
Surrounding Variants
1 paper
NM_003905.4
p.L17L
c.49C>T
1 paper
NM_003905.4
p.A2A
c.6G>T
1 paper
NM_003905.4
p.L19fs
c.55_56fs
1 paper
NM_003905.4
p.G24E
c.71G>A
1 paper
NM_003905.4
p.T39K
c.116C>A
1 paper
NM_003905.4
p.T39delFs
c.116delG
1 paper
NM_003905.4
p.T41A
c.121A>G
1 paper
NM_003905.4
p.S56_F57delFs
c.167_170del4
1 paper
NM_003905.4
p.N72fs
c.214_215fs
1 paper
NM_003905.4
p.N72K
c.216C>A
1 paper
NM_003905.4
p.G82A
c.245G>C
1 paper
NM_003905.4
p.K83_N84Splc
c.249+2T>A
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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."