Varaico: Literature-Extracted Genetic Variants

Gene:EPM2A
Variant:p.R272C

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.R272C
c.814C>T
Surrounding Variants
1 paper
NM_005670.4
p.T274A
c.820A>G
2 papers
NM_005670.4
p.T274fs
c.820_821fs
1 paper
NM_005670.4
p.A275V
c.824C>T
6 papers
NM_005670.4
p.N267fs
c.799_800fs
6 papers
NM_005670.4
p.N267insFs
c.800_801insA
2 papers
NM_005670.4
p.G269_A275del7
c.805_824del21
1 paper
NM_005670.4
p.N267fs
c.799_800fs
1 paper
NM_005670.4
p.A276_V277insFs
c.826_829dup4
33 papers
NM_005670.4
p.C266S
c.797G>C
2 papers
NM_005670.4
p.C266Y
c.797G>A
33 papers
NM_005670.4
p.C266S
c.796T>A
1 paper
NM_005670.4
p.C278S
c.832T>A
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