Varaico: Literature-Extracted Genetic Variants

Gene:ACP5

ACP5

172 papers

RefSeq Summary

This gene encodes an iron containing glycoprotein which catalyzes the conversion of orthophosphoric monoester to alcohol and orthophosphate. It is the most basic of the acid phosphatases and is the on...

Pfam Domains

Metallophosaa 26–244UCSCCalcineurin-like phosphoesterase

Gene Aliases

HGNC Name

acid phosphatase 5, tartrate resistant

HGNC Alias Symbols

HPAP; TRAcP

Papers
RefSeq ID
Protein change
DNA change
1–12 of 150 variants
14 papers
NM_001611.5
p.G215R
c.643G>A
12 papers
NM_001611.5
p.K52T
c.155A>C
12 papers
NM_001611.5
p.G109R
c.325G>A
12 papers
NM_001611.5
p.G215R
c.643G>C
10 papers
NM_001611.5
p.G109R
c.325G>C
10 papers
NM_001611.5
p.M264K
c.791T>A
7 papers
NM_001611.5
p.T89I
c.266C>T
7 papers
NM_001611.5
p.S258fs
c.772_773fs
6 papers
NM_001611.5
p.D241N
c.721G>A
5 papers
NM_001611.5
p.R46W
c.136C>T
5 papers
NM_001611.5
p.V150E
c.449T>A
5 papers
NM_001611.5
p.S258_M264delFs
c.772_790del19
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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."