Varaico: Literature-Extracted Genetic Variants

Gene:NAALADL1
Variant:p.L393P

NAALADL1

89 papers

Pfam Domains

PAaa 145–251UCSCPA domain
Peptidase_M28aa 348–560UCSCPeptidase family M28
TFR_dimeraa 616–735UCSCTransferrin receptor-like dimerisation domain

Gene Aliases

HGNC Name

N-acetylated alpha-linked acidic dipeptidase like 1

HGNC Alias Symbol

HILAP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005468.3
p.L393P
c.1178T>C
Surrounding Variants
1 paper
NM_005468.3
p.K398T
c.1193A>C
2 papers
NM_005468.3
p.V385I
c.1153G>A
1 paper
NM_005468.3
p.P379T
c.1135C>A
1 paper
NM_005468.3
p.G375R
c.1123G>C
1 paper
NM_005468.3
p.G375R
c.1123G>A
1 paper
NM_005468.3
p.D370N
c.1108G>A
1 paper
NM_005468.3
p.L364P
c.1091T>C
1 paper
NM_005468.3
p.Y362Y
c.1086C>T
1 paper
NM_005468.3
p.Y362F
c.1085A>T
4 papers
NM_005468.3
p.N339H
c.1015A>C
1 paper
NM_005468.3
p.A303S
c.907G>T
1 paper
NM_005468.3
p.G300E
c.899G>A
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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."