Varaico: Literature-Extracted Genetic Variants

Gene:EPM2A
Variant:p.A313fs

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.A313fs
c.937_938fs
Surrounding Variants
3 papers
NM_005670.4
p.A313delFs
c.937delC
1 paper
NM_005670.4
p.A313fs
c.937_938fs
3 papers
NM_005670.4
p.L310W
c.929T>G
1 paper
NM_005670.4
p.F318Y
c.953T>A
3 papers
NM_005670.4
p.F317insFs
c.950_951insT
1 paper
NM_005670.4
p.Q319fs
c.955_956fs
1 paper
NM_005670.4
p.E308V
c.923A>T
1 paper
NM_005670.4
p.E308A
c.923A>C
7 papers
NM_005670.4
p.Q319fs
c.955_956fs
2 papers
NM_005670.4
p.D306V
c.917A>T
6 papers
NM_005670.4
p.F321C
c.962T>G
1 paper
NM_005670.4
p.F321S
c.962T>C
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