Varaico: Literature-Extracted Genetic Variants

Gene:EPM2A
Variant:p.W230*

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.W230*
c.690G>A
Surrounding Variants
1 paper
NM_005670.4
p.Y221_M231delFs
c.661_692del32
1 paper
NM_005670.4
p.T233A
c.697A>G
1 paper
NM_005670.4
p.T233T
c.699A>C
2 papers
NM_005670.4
p.D235A
c.704A>C
1 paper
NM_005670.4
p.T238A
c.712A>G
4 papers
NM_005670.4
p.G240S
c.718G>A
3 papers
NM_005670.4
p.L220Q
c.659T>A
1 paper
NM_005670.4
p.T216A
c.646A>G
1 paper
NM_005670.4
p.T213A
c.637A>G
2 papers
NM_005670.4
p.P211L
c.632C>T
1 paper
NM_005670.4
p.Y208_P209insFs
c.624_627dup4
2 papers
NM_005670.4
p.E210K
c.628G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."