Varaico: Literature-Extracted Genetic Variants

Gene:EPM2A
Variant:p.L117insFs

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.L117insFs
c.349dupT
Surrounding Variants
1 paper
NM_005670.4
p.N115_N116insT
c.343_347ins3
1 paper
NM_005670.4
p.V121M
c.361G>A
2 papers
NM_005670.4
p.G120_V121delFs
c.359_363del5
1 paper
NM_005670.4
p.Y122fs
c.364_365fs
2 papers
NM_005670.4
p.Y122insFs
c.365_366insGT
3 papers
NM_005670.4
p.Y122fs
c.364_365fs
6 papers
NM_005670.4
p.Y112*
c.336C>G
5 papers
NM_005670.4
p.Y112fs
c.334_335fs
4 papers
NM_005670.4
p.Y112_N113insFs
c.336_337insA
6 papers
NM_005670.4
p.Y112*
c.336C>A
1 paper
NM_005670.4
p.C123S
c.367T>A
1 paper
NM_005670.4
p.Y112S
c.335A>C
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