Varaico: Literature-Extracted Genetic Variants

Gene:DNPEP
Variant:p.N50H

DNPEP

40 papers

RefSeq Summary

The protein encoded by this gene is an aminopeptidase which prefers acidic amino acids, and specifically favors aspartic acid over glutamic acid. It is thought to be a cytosolic protein involved in ge...

Pfam Domains

Peptidase_M18aa 20–458UCSCAminopeptidase I zinc metalloprotease (M18)

Gene Aliases

HGNC Name

aspartyl aminopeptidase

HGNC Alias Symbol

ASPEP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_012100.4
p.N50H
c.148A>C
Surrounding Variants
1 paper
NM_012100.4
p.R51H
c.152G>A
1 paper
NM_012100.4
p.L52_L53delFs
c.156_159del4
2 papers
NM_012100.4
p.N36H
c.106A>C
1 paper
NM_012100.4
p.Q91_Y92delFs
c.273_276del4
1 paper
NM_012100.4
p.D106fs
c.316_317fs
1 paper
NM_012100.4
p.T105_D106delFs
c.315_318del4
1 paper
NM_012100.4
p.R111_V112Splc
c.334-75A>G
1 paper
NM_012100.4
p.K113_R114delFs
c.339_342del4
1 paper
NM_012100.4
p.Q120H
c.360G>T
1 paper
NM_012100.4
p.G122R
c.364G>C
1 paper
NM_012100.4
p.Q124fs
c.370_371fs
1 paper
NM_012100.4
p.E129*
c.385G>T
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