Varaico: Literature-Extracted Genetic Variants

Gene:EPM2A
Variant:p.H260R

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.H260R
c.779A>G
Surrounding Variants
1 paper
NM_005670.4
p.I261T
c.782T>C
1 paper
NM_005670.4
p.V262M
c.784G>A
2 papers
NM_005670.4
p.Y263H
c.787T>C
2 papers
NM_005670.4
p.Y263fs
c.787_788fs
3 papers
NM_005670.4
p.H265R
c.794A>G
33 papers
NM_005670.4
p.C266S
c.796T>A
33 papers
NM_005670.4
p.C266S
c.797G>C
2 papers
NM_005670.4
p.C266Y
c.797G>A
2 papers
NM_005670.4
p.A254fs
c.760_761fs
3 papers
NM_005670.4
p.H253fs
c.757_758fs
2 papers
NM_005670.4
p.H253Fs
c.759delinsCATGCAFs
1 paper
NM_005670.4
p.N267fs
c.799_800fs
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