Varaico: Literature-Extracted Genetic Variants

Gene:NAE1
Variant:p.K167R

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
2 papers
NM_003905.4
p.K167R
c.500A>G
Surrounding Variants
1 paper
NM_003905.4
p.R163fs
c.487_488fs
1 paper
NM_003905.4
p.R163S
c.489G>C
1 paper
NM_003905.4
p.P132L
c.395C>T
1 paper
NM_003905.4
p.N115S
c.344A>G
1 paper
NM_003905.4
p.E87K
c.259G>A
1 paper
NM_003905.4
p.H195Q
c.585T>G
1 paper
NM_003905.4
p.H195Q
c.585T>A
1 paper
NM_003905.4
p.E205K
c.613G>A
1 paper
NM_003905.4
p.K83_N84Splc
c.249+2T>A
1 paper
NM_003905.4
p.G82A
c.245G>C
1 paper
NM_003905.4
p.D208G
c.623A>G
1 paper
NM_003905.4
p.V216L
c.646G>T
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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."