Varaico: Literature-Extracted Genetic Variants

Gene:NAALADL1
Variant:p.A211V

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.A211V
c.632C>T
Surrounding Variants
1 paper
NM_005468.3
p.A211fs
c.631_632fs
1 paper
NM_005468.3
p.G212_V213ins4
c.634_638ins12
1 paper
NM_005468.3
p.V213G
c.638T>G
1 paper
NM_005468.3
p.G209E
c.626G>A
1 paper
NM_005468.3
p.A211_Y216delFs
c.631_647del17
2 papers
NM_005468.3
p.R246*
c.736C>T
1 paper
NM_005468.3
p.R246L
c.737G>T
2 papers
NM_005468.3
p.E251K
c.751G>A
1 paper
NM_005468.3
p.Y260Y
c.780C>T
1 paper
NM_005468.3
p.D293A
c.878A>C
1 paper
NM_005468.3
p.G300E
c.899G>A
1 paper
NM_005468.3
p.A303S
c.907G>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."