Varaico: Literature-Extracted Genetic Variants

Gene:EPM2A
Variant:p.F88L

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
10 papers
NM_005670.4
p.F88L
c.264C>G
Surrounding Variants
10 papers
NM_005670.4
p.F88L
c.264C>A
3 papers
NM_005670.4
p.F88V
c.262T>G
10 papers
NM_005670.4
p.F88L
c.262T>C
1 paper
NM_005670.4
p.K90fs
c.268_269fs
3 papers
NM_005670.4
p.K87T
c.260A>C
1 paper
NM_005670.4
p.K87*
c.259A>T
3 papers
NM_005670.4
p.K87E
c.259A>G
5 papers
NM_005670.4
p.K90fs
c.268_269fs
10 papers
NM_005670.4
p.Y86*
c.258C>G
10 papers
NM_005670.4
p.Y86*
c.258C>A
3 papers
NM_005670.4
p.Y86D
c.256T>G
7 papers
NM_005670.4
p.R91P
c.272G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."