Varaico: Literature-Extracted Genetic Variants

Gene:EPM2A
Variant:p.W60*

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
4 papers
NM_005670.4
p.W60*
c.180G>A
Surrounding Variants
4 papers
NM_005670.4
p.W60*
c.179G>A
1 paper
NM_005670.4
p.E63G
c.188A>G
2 papers
NM_005670.4
p.E56*
c.166G>T
3 papers
NM_005670.4
p.E56K
c.166G>A
1 paper
NM_005670.4
p.Q55delFs
c.163delG
6 papers
NM_005670.4
p.Q55*
c.163C>T
5 papers
NM_005670.4
p.Q55K
c.163C>A
1 paper
NM_005670.4
p.A67S
c.199G>T
2 papers
NM_005670.4
p.A53A
c.159C>G
1 paper
NM_005670.4
p.A68delFs
c.204delG
1 paper
NM_005670.4
p.G50E
c.149G>A
1 paper
NM_005670.4
p.G48D
c.143G>A
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