Varaico: Literature-Extracted Genetic Variants

Gene:EPM2A
Variant:p.C109S

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.C109S
c.325T>A
Surrounding Variants
1 paper
NM_005670.4
p.C109S
c.326G>C
1 paper
NM_005670.4
p.R108delFs
c.324delA
3 papers
NM_005670.4
p.R108L
c.323G>T
1 paper
NM_005670.4
p.R108H
c.323G>A
1 paper
NM_005670.4
p.C110S
c.328T>A
21 papers
NM_005670.4
p.R108C
c.322C>T
1 paper
NM_005670.4
p.C110S
c.329G>C
1 paper
NM_005670.4
p.T111A
c.331A>G
1 paper
NM_005670.4
p.T111I
c.332C>T
1 paper
NM_005670.4
p.T111N
c.332C>A
1 paper
NM_005670.4
p.Y112S
c.335A>C
6 papers
NM_005670.4
p.Y112*
c.336C>G
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