Varaico: Literature-Extracted Genetic Variants

Gene:NTAN1

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
1–12 of 49 variants
3 papers
NM_173474.4
p.S287P
c.859T>C
2 papers
NM_173474.4
p.Q50H
c.150G>T
2 papers
NM_173474.4
p.Q50H
c.150G>C
2 papers
NM_173474.4
p.E171K
c.511G>A
2 papers
NM_173474.4
p.H283N
c.847C>A
1 paper
NM_173474.4
p.M1insFs
c.2dupT
1 paper
NM_173474.4
p.L3fs
c.7_8fs
1 paper
NM_173474.4
p.E6K
c.16G>A
1 paper
NM_173474.4
p.R11_L12delFs
c.33_36del4
1 paper
NM_173474.4
p.Q36R
c.107A>G
1 paper
NM_173474.4
p.L33_Q36del4
c.97_107del12
1 paper
NM_173474.4
p.P43L
c.128C>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."