Varaico: Literature-Extracted Genetic Variants

Gene:NTAN1
Variant:p.E171K

NTAN1

35 papers

RefSeq Summary

The protein encoded by this gene functions in a step-wise process of protein degradation through the N-end rule pathway. This protein acts as a tertiary destabilizing enzyme that deamidates N-terminal...

Pfam Domains

N_Asn_amidohydaa 1–199UCSCProtein N-terminal asparagine amidohydrolase

Gene Aliases

HGNC Name

N-terminal asparagine amidase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_173474.4
p.E171K
c.511G>A
Surrounding Variants
1 paper
NM_173474.4
p.H173Q
c.519C>G
1 paper
NM_173474.4
p.H173Q
c.519C>A
1 paper
NM_173474.4
p.N165H
c.493A>C
1 paper
NM_173474.4
p.L164*
c.491T>G
1 paper
NM_173474.4
p.L164*
c.491T>A
1 paper
NM_173474.4
p.I180T
c.539T>C
1 paper
NM_173474.4
p.H155Q
c.465C>G
1 paper
NM_173474.4
p.H155Q
c.465C>A
1 paper
NM_173474.4
p.Y190_R191insA
c.568_572ins3
1 paper
NM_173474.4
p.A192P
c.574G>C
1 paper
NM_173474.4
p.Q195E
c.583C>G
1 paper
NM_173474.4
p.E200Q
c.598G>C
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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."