Varaico: Literature-Extracted Genetic Variants

Gene:NTAN1
Variant:p.H283N

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.H283N
c.847C>A
Surrounding Variants
1 paper
NM_173474.4
p.P279_S280insFs
c.837_838dupAT
1 paper
NM_173474.4
p.S280fs
c.838_839fs
3 papers
NM_173474.4
p.S287P
c.859T>C
1 paper
NM_173474.4
p.E260A
c.779A>C
1 paper
NM_173474.4
p.T255A
c.763A>G
1 paper
NM_173474.4
p.S254A
c.760T>G
1 paper
NM_173474.4
p.K247E
c.739A>G
1 paper
NM_173474.4
p.R226H
c.677G>A
1 paper
NM_173474.4
p.R226C
c.676C>T
1 paper
NM_173474.4
p.T208S
c.623C>G
1 paper
NM_173474.4
p.T208S
c.622A>T
1 paper
NM_173474.4
p.E200Q
c.598G>C
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