Varaico: Literature-Extracted Genetic Variants

Gene:EPM2A

EPM2A

225 papers

RefSeq Summary

This gene encodes a dual-specificity phosphatase and may be involved in the regulation of glycogen metabolism. The protein acts on complex carbohydrates to prevent glycogen hyperphosphorylation, thus ...

Pfam Domains

CBM_20aa 9–118UCSCStarch binding domain
DSPcaa 164–311UCSCDual specificity phosphatase, catalytic domain

Gene Aliases

HGNC Name

EPM2A glucan phosphatase, laforin

HGNC Alias Symbols

LDE; LD

Papers
RefSeq ID
Protein change
DNA change
1–12 of 257 variants
42 papers
NM_005670.4
p.R241*
c.721C>T
33 papers
NM_005670.4
p.W32G
c.94T>G
33 papers
NM_005670.4
p.C266S
c.796T>A
33 papers
NM_005670.4
p.C266S
c.797G>C
21 papers
NM_005670.4
p.R108C
c.322C>T
18 papers
NM_005670.4
p.Q293L
c.878A>T
16 papers
NM_005670.4
p.G279S
c.835G>A
14 papers
NM_005670.4
p.R171H
c.512G>A
13 papers
NM_005670.4
p.F84L
c.250T>C
13 papers
NM_005670.4
p.F84L
c.252C>G
13 papers
NM_005670.4
p.F84L
c.252C>A
12 papers
NM_005670.4
p.G240S
c.718G>A
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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."