Varaico: Literature-Extracted Genetic Variants

Gene:ACYP1
Variant:p.Q96*

ACYP1

11 papers

RefSeq Summary

This gene is a member of the acylphosphatase family. The encoded protein is a small cytosolic enzyme that catalyzes the hydrolysis of the carboxyl-phosphate bond of acylphosphates. Two isoenzymes have...

Pfam Domains

Acylphosphataseaa 10–97UCSCAcylphosphatase

Gene Aliases

HGNC Name

acylphosphatase 1

HGNC Previous Name

acylphosphatase 1, erythrocyte (common) type

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001107.5
p.Q96*
c.286C>T
Surrounding Variants
1 paper
NM_001107.5
p.I76T
c.227T>C
1 paper
NM_001107.5
p.R69K
c.206G>A
3 papers
NM_001107.5
p.L52F
c.156G>T
3 papers
NM_001107.5
p.L52F
c.156G>C
1 paper
NM_001107.5
p.V40G
c.119T>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."