Varaico: Literature-Extracted Genetic Variants

Gene:EPM2A
Variant:p.A68delFs

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.A68delFs
c.204delG
Surrounding Variants
1 paper
NM_005670.4
p.A67S
c.199G>T
1 paper
NM_005670.4
p.E63G
c.188A>G
3 papers
NM_005670.4
p.G75insFs
c.223_224insC
4 papers
NM_005670.4
p.G75fs
c.223_224fs
4 papers
NM_005670.4
p.W60*
c.180G>A
4 papers
NM_005670.4
p.W60*
c.179G>A
2 papers
NM_005670.4
p.G79fs
c.235_236fs
1 paper
NM_005670.4
p.G79delFs
c.235delC
2 papers
NM_005670.4
p.E56*
c.166G>T
2 papers
NM_005670.4
p.D82H
c.244G>C
3 papers
NM_005670.4
p.E56K
c.166G>A
3 papers
NM_005670.4
p.D82fs
c.244_245fs
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."