Varaico: Literature-Extracted Genetic Variants

Gene:NAALADL1
Variant:p.V690I

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
2 papers
NM_005468.3
p.V690I
c.2068G>A
Surrounding Variants
1 paper
NM_005468.3
p.G688D
c.2063G>A
1 paper
NM_005468.3
p.T687M
c.2060C>T
1 paper
NM_005468.3
p.R686H
c.2057G>A
1 paper
NM_005468.3
p.R686ins6
c.2056_2057ins18
4 papers
NM_005468.3
p.P694L
c.2081C>T
1 paper
NM_005468.3
p.T725K
c.2174C>A
1 paper
NM_005468.3
p.A731insFs
c.2191dupG
1 paper
NM_005468.3
p.P736L
c.2207C>T
1 paper
NM_005468.3
p.R676H
c.2027G>A
1 paper
NM_005468.3
p.R676C
c.2026C>T
1 paper
NM_005468.3
p.E675K
c.2023G>A
1 paper
NM_005468.3
p.E674G
c.2021A>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."