Varaico: Literature-Extracted Genetic Variants

Gene:RNPEPL1
Variant:p.P331R

RNPEPL1

41 papers

Pfam Domains

Peptidase_M1_Naa 136–258UCSCPeptidase M1 N-terminal domain
Peptidase_M1aa 290–500UCSCPeptidase family M1 domain
Leuk-A4-hydro_Caa 560–673UCSCLeukotriene A4 hydrolase, C-terminal

Gene Aliases

HGNC Name

arginyl aminopeptidase like 1

HGNC Previous Name

arginyl aminopeptidase (aminopeptidase B)-like 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018226.6
p.P331R
c.992C>G
Surrounding Variants
1 paper
NM_018226.6
p.A327V
c.980C>T
1 paper
NM_018226.6
p.I336I
c.1008C>T
1 paper
NM_018226.6
p.E354K
c.1060G>A
1 paper
NM_018226.6
p.G361S
c.1081G>A
1 paper
NM_018226.6
p.T368T
c.1104G>A
1 paper
NM_018226.6
p.T286M
c.857C>T
1 paper
NM_018226.6
p.Q410R
c.1229A>G
1 paper
NM_018226.6
p.S418S
c.1254C>T
1 paper
NM_018226.6
p.P429S
c.1285C>T
1 paper
NM_018226.6
p.F440Y
c.1319T>A
1 paper
NM_018226.6
p.R461H
c.1382G>A
1 paper
NM_018226.6
p.F248L
c.742T>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."