Varaico: Literature-Extracted Genetic Variants

Gene:EPM2A
Variant:p.C329*

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.C329*
c.987T>A
Surrounding Variants
2 papers
NM_005670.4
p.C329S
c.986G>C
2 papers
NM_005670.4
p.C329S
c.985T>A
1 paper
NM_005670.4
p.V328M
c.982G>A
2 papers
NM_005670.4
p.L331delFs
c.992delA
1 paper
NM_005670.4
p.S327A
c.979T>G
1 paper
NM_005670.4
p.S326A
c.976T>G
1 paper
NM_005670.4
p.R325H
c.974G>A
6 papers
NM_005670.4
p.F321C
c.962T>G
1 paper
NM_005670.4
p.F321S
c.962T>C
7 papers
NM_005670.4
p.Q319fs
c.955_956fs
1 paper
NM_005670.4
p.Q319fs
c.955_956fs
3 papers
NM_005670.4
p.F317insFs
c.950_951insT
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."