Varaico: Literature-Extracted Genetic Variants

Gene:ACP2
Variant:p.S374R

ACP2

136 papers

RefSeq Summary

The protein encoded by this gene belongs to the histidine acid phosphatase family, which hydrolyze orthophosphoric monoesters to alcohol and phosphate. This protein is localized to the lysosomal membr...

Pfam Domains

His_Phos_2aa 32–330UCSCHistidine phosphatase superfamily (branch 2)

Gene Aliases

HGNC Name

acid phosphatase 2, lysosomal

HGNC Alias Name

lysosomal acid phosphatase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001610.4
p.S374R
c.1120A>C
Surrounding Variants
1 paper
NM_001610.4
p.S374R
c.1122C>G
1 paper
NM_001610.4
p.S374R
c.1122C>A
1 paper
NM_001610.4
p.G375S
c.1123G>A
1 paper
NM_001610.4
p.Q367*
c.1099C>T
1 paper
NM_001610.4
p.V361ins1
c.1081_1082insAGA
1 paper
NM_001610.4
p.T358I
c.1073C>T
4 papers
NM_001610.4
p.D353E
c.1059C>G
4 papers
NM_001610.4
p.D353E
c.1059C>A
1 paper
NM_001610.4
p.Q352H
c.1056G>T
1 paper
NM_001610.4
p.Q352H
c.1056G>C
1 paper
NM_001610.4
p.R348C
c.1042C>T
1 paper
NM_001610.4
p.P346_H347del1
c.1038_1040delTGA
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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."