Varaico: Literature-Extracted Genetic Variants

Gene:NTAN1
Variant:p.C75S

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
1 paper
NM_173474.4
p.C75S
c.223T>A
Surrounding Variants
1 paper
NM_173474.4
p.C75S
c.224G>C
1 paper
NM_173474.4
p.T74A
c.220A>G
1 paper
NM_173474.4
p.T73A
c.217A>G
1 paper
NM_173474.4
p.V78L
c.232G>T
1 paper
NM_173474.4
p.V78L
c.232G>C
1 paper
NM_173474.4
p.S69A
c.205T>G
1 paper
NM_173474.4
p.I64fs
c.190_191fs
1 paper
NM_173474.4
p.I64insFs
c.190_191insA
1 paper
NM_173474.4
p.G62Splc
c.185-1G>A
1 paper
NM_173474.4
p.K60Q
c.178A>C
2 papers
NM_173474.4
p.Q50H
c.150G>T
2 papers
NM_173474.4
p.Q50H
c.150G>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."