Varaico: Literature-Extracted Genetic Variants

Gene:EPM2A
Variant:p.E195delFs

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
2 papers
NM_005670.4
p.E195delFs
c.583delC
Surrounding Variants
8 papers
NM_005670.4
p.T194I
c.581C>T
1 paper
NM_005670.4
p.Q193Q
c.579G>A
1 paper
NM_005670.4
p.D197V
c.590A>T
2 papers
NM_005670.4
p.D197A
c.590A>C
4 papers
NM_005670.4
p.I198N
c.593T>A
1 paper
NM_005670.4
p.T194_Q200delFs
c.581_599del19
2 papers
NM_005670.4
p.A188G
c.563C>G
5 papers
NM_005670.4
p.T187A
c.559A>G
1 paper
NM_005670.4
p.G204_C205insFs
c.612_613insT
1 paper
NM_005670.4
p.C205G
c.613T>G
1 paper
NM_005670.4
p.C205S
c.613T>A
1 paper
NM_005670.4
p.G204delFs
c.612delG
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