Varaico: Literature-Extracted Genetic Variants

Gene:RNPEP

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
1–12 of 113 variants
6 papers
NM_020216.4
p.E106D
c.318G>C
6 papers
NM_020216.4
p.E106D
c.318G>T
6 papers
NM_020216.4
p.V579I
c.1735G>A
4 papers
NM_020216.4
p.E106Q
c.316G>C
3 papers
NM_020216.4
p.E106A
c.317A>C
2 papers
NM_020216.4
p.P245L
c.734C>T
2 papers
NM_020216.4
p.N484T
c.1451A>C
2 papers
NM_020216.4
p.A630T
c.1888G>A
1 paper
NM_020216.4
p.M1V
c.1A>G
1 paper
NM_020216.4
p.M1I
c.3G>A
1 paper
NM_020216.4
p.M1I
c.3G>C
1 paper
NM_020216.4
p.M1I
c.3G>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."