Varaico: Literature-Extracted Genetic Variants

Gene:NAALADL1
Variant:p.R676C

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.R676C
c.2026C>T
Surrounding Variants
1 paper
NM_005468.3
p.R676H
c.2027G>A
1 paper
NM_005468.3
p.E675K
c.2023G>A
1 paper
NM_005468.3
p.E674G
c.2021A>G
1 paper
NM_005468.3
p.F666Y
c.1997T>A
1 paper
NM_005468.3
p.P649R
c.1946C>G
1 paper
NM_005468.3
p.S640*
c.1919C>G
1 paper
NM_005468.3
p.S640*
c.1919C>A
1 paper
NM_005468.3
p.R638H
c.1913G>A
1 paper
NM_005468.3
p.R638C
c.1912C>T
1 paper
NM_005468.3
p.G636D
c.1907G>A
1 paper
NM_005468.3
p.P620H
c.1859C>A
1 paper
NM_005468.3
p.R686ins6
c.2056_2057ins18
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