Varaico: Literature-Extracted Genetic Variants

Gene:EPM2A
Variant:p.G79delFs

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.G79delFs
c.235delC
Surrounding Variants
2 papers
NM_005670.4
p.G79fs
c.235_236fs
2 papers
NM_005670.4
p.D82H
c.244G>C
3 papers
NM_005670.4
p.D82fs
c.244_245fs
2 papers
NM_005670.4
p.D82fs
c.244_245fs
1 paper
NM_005670.4
p.T83A
c.247A>G
7 papers
NM_005670.4
p.V81_D82delFs
c.243_246del4
1 paper
NM_005670.4
p.T83M
c.248C>T
4 papers
NM_005670.4
p.G75fs
c.223_224fs
13 papers
NM_005670.4
p.F84L
c.250T>C
3 papers
NM_005670.4
p.G75insFs
c.223_224insC
13 papers
NM_005670.4
p.F84L
c.252C>G
13 papers
NM_005670.4
p.F84L
c.252C>A
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