Varaico: Literature-Extracted Genetic Variants

Gene:EPM2A
Variant:p.G101Splc

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.G101Splc
c.301+5T>C
Surrounding Variants
2 papers
NM_005670.4
p.G101Splc
c.301+1G>T
2 papers
NM_005670.4
p.G101Splc
c.301+1G>C
5 papers
NM_005670.4
p.G101Splc
c.301+1G>A
1 paper
NM_005670.4
p.G101S
c.301G>A
1 paper
NM_005670.4
p.S98A
c.292T>G
1 paper
NM_005670.4
p.S98P
c.292T>C
2 papers
NM_005670.4
p.L97R
c.290T>G
4 papers
NM_005670.4
p.P93P
c.279G>C
1 paper
NM_005670.4
p.P93L
c.278C>T
2 papers
NM_005670.4
p.K90_E92delFs
c.269_275del7
7 papers
NM_005670.4
p.R91P
c.272G>C
1 paper
NM_005670.4
p.R91Q
c.272G>A
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