Varaico: Literature-Extracted Genetic Variants

Gene:NAALADL1
Variant:p.T123S

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.T123S
c.368C>G
Surrounding Variants
1 paper
NM_005468.3
p.T123S
c.367A>T
1 paper
NM_005468.3
p.G142R
c.424G>C
1 paper
NM_005468.3
p.G142R
c.424G>A
1 paper
NM_005468.3
p.G142del1
c.424_425delCCC
1 paper
NM_005468.3
p.Q148H
c.444A>T
1 paper
NM_005468.3
p.Q148H
c.444A>C
1 paper
NM_005468.3
p.A151S
c.451G>T
1 paper
NM_005468.3
p.G157E
c.470G>A
1 paper
NM_005468.3
p.Q111*
c.331C>T
1 paper
NM_005468.3
p.E103G
c.308A>G
1 paper
NM_005468.3
p.D95A
c.284A>C
1 paper
NM_005468.3
p.P90L
c.269C>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."