Varaico: Literature-Extracted Genetic Variants

Gene:EPM2A
Variant:p.T136A

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
Selected Variant
1 paper
NM_005670.4
p.T136A
c.406A>G
Surrounding Variants
2 papers
NM_005670.4
p.G134G
c.402G>A
6 papers
NM_005670.4
p.E138*
c.412G>T
1 paper
NM_005670.4
p.T133A
c.397A>G
1 paper
NM_005670.4
p.K140N
c.420G>T
1 paper
NM_005670.4
p.K140N
c.420G>C
1 paper
NM_005670.4
p.E131*
c.391G>T
3 papers
NM_005670.4
p.T142A
c.424A>G
1 paper
NM_005670.4
p.T143A
c.427A>G
1 paper
NM_005670.4
p.I126T
c.377T>C
1 paper
NM_005670.4
p.Y146F
c.437A>T
1 paper
NM_005670.4
p.P125S
c.373C>T
4 papers
NM_005670.4
p.N148Y
c.442A>T
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