Varaico: Literature-Extracted Genetic Variants

Gene:EPM2A
Variant:p.Q293L

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
18 papers
NM_005670.4
p.Q293L
c.878A>T
Surrounding Variants
12 papers
NM_005670.4
p.Y294N
c.880T>A
1 paper
NM_005670.4
p.M297_A298insFs
c.891_892insTT
1 paper
NM_005670.4
p.A298fs
c.892_893fs
2 papers
NM_005670.4
p.W287*
c.861G>A
2 papers
NM_005670.4
p.W287*
c.860G>A
3 papers
NM_005670.4
p.W287R
c.859T>C
3 papers
NM_005670.4
p.W287R
c.859T>A
1 paper
NM_005670.4
p.K299_R300insFs
c.897_898insA
1 paper
NM_005670.4
p.R300delFs
c.898delT
11 papers
NM_005670.4
p.P301L
c.902C>T
1 paper
NM_005670.4
p.P301R
c.902C>G
1 paper
NM_005670.4
p.Y283Y
c.849T>C
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