Varaico: Literature-Extracted Genetic Variants

Gene:EPM2A
Variant:p.W32G

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
33 papers
NM_005670.4
p.W32G
c.94T>G
Surrounding Variants
4 papers
NM_005670.4
p.W32L
c.95G>T
2 papers
NM_005670.4
p.W32fs
c.94_95fs
1 paper
NM_005670.4
p.G30fs
c.88_89fs
1 paper
NM_005670.4
p.P34L
c.101C>T
1 paper
NM_005670.4
p.L29insFs
c.85_86insG
1 paper
NM_005670.4
p.R35fs
c.103_104fs
1 paper
NM_005670.4
p.W32_R35delFs
c.94_104del11
5 papers
NM_005670.4
p.E28K
c.82G>A
5 papers
NM_005670.4
p.G36fs
c.106_107fs
1 paper
NM_005670.4
p.A37fs
c.109_110fs
2 papers
NM_005670.4
p.R26Q
c.77G>A
2 papers
NM_005670.4
p.A37fs
c.109_110fs
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