Varaico: Literature-Extracted Genetic Variants

Gene:EPM2A
Variant:p.L29insFs

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.L29insFs
c.85_86insG
Surrounding Variants
5 papers
NM_005670.4
p.E28K
c.82G>A
1 paper
NM_005670.4
p.G30fs
c.88_89fs
2 papers
NM_005670.4
p.R26Q
c.77G>A
33 papers
NM_005670.4
p.W32G
c.94T>G
4 papers
NM_005670.4
p.W32L
c.95G>T
1 paper
NM_005670.4
p.S25S
c.75G>A
2 papers
NM_005670.4
p.W32fs
c.94_95fs
3 papers
NM_005670.4
p.S25A
c.73T>G
7 papers
NM_005670.4
p.S25P
c.73T>C
1 paper
NM_005670.4
p.P34L
c.101C>T
1 paper
NM_005670.4
p.R35fs
c.103_104fs
1 paper
NM_005670.4
p.V22V
c.66G>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."