Varaico: Literature-Extracted Genetic Variants

Gene:EPM2A
Variant:p.R241*

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
42 papers
NM_005670.4
p.R241*
c.721C>T
Surrounding Variants
1 paper
NM_005670.4
p.R241R
c.721C>A
12 papers
NM_005670.4
p.G240S
c.718G>A
1 paper
NM_005670.4
p.M244delFs
c.730delT
2 papers
NM_005670.4
p.Q247*
c.739C>T
7 papers
NM_005670.4
p.Q243_P246del4
c.727_737del12
2 papers
NM_005670.4
p.V249L
c.745G>T
1 paper
NM_005670.4
p.V249L
c.745G>C
1 paper
NM_005670.4
p.C250S
c.748T>A
1 paper
NM_005670.4
p.C250S
c.749G>C
1 paper
NM_005670.4
p.L252L
c.756G>A
3 papers
NM_005670.4
p.H253L
c.758A>T
3 papers
NM_005670.4
p.H253fs
c.757_758fs
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