Varaico: Literature-Extracted Genetic Variants

Gene:RNPEP
Variant:p.N484H

RNPEP

181 papers

Pfam Domains

Peptidase_M1_Naa 38–230UCSCPeptidase M1 N-terminal domain
Peptidase_M1_Naa 38–230UCSCPeptidase M1 N-terminal domain
Peptidase_M1_Naa 38–230UCSCPeptidase M1 N-terminal domain
Peptidase_M1aa 261–482UCSCPeptidase family M1 domain
Peptidase_M1aa 261–482UCSCPeptidase family M1 domain
Leuk-A4-hydro_Caa 530–645UCSCLeukotriene A4 hydrolase, C-terminal

Gene Aliases

HGNC Name

arginyl aminopeptidase

HGNC Alias Symbol

APB

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020216.4
p.N484H
c.1450A>C
Surrounding Variants
2 papers
NM_020216.4
p.N484T
c.1451A>C
1 paper
NM_020216.4
p.A524A
c.1572C>T
1 paper
NM_020216.4
p.R567W
c.1699C>T
6 papers
NM_020216.4
p.V579I
c.1735G>A
1 paper
NM_020216.4
p.W589*
c.1766G>A
1 paper
NM_020216.4
p.W589*
c.1767G>A
1 paper
NM_020216.4
p.V591M
c.1771G>A
1 paper
NM_020216.4
p.V591G
c.1772T>G
1 paper
NM_020216.4
p.V591V
c.1773G>C
1 paper
NM_020216.4
p.E465Q
c.1393G>C
1 paper
NM_020216.4
p.Q433P
c.1298A>C
1 paper
NM_020216.4
p.F420C
c.1259T>G
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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."