Varaico: Literature-Extracted Genetic Variants

Gene:EPM2A
Variant:p.I164_L166delFs

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.I164_L166delFs
c.490_496del7
Surrounding Variants
1 paper
NM_005670.4
p.L166L
c.496C>T
9 papers
NM_005670.4
p.W165*
c.495G>A
9 papers
NM_005670.4
p.W165*
c.494G>A
2 papers
NM_005670.4
p.I164S
c.491T>G
2 papers
NM_005670.4
p.I164delFs
c.490delT
1 paper
NM_005670.4
p.I164fs
c.490_491fs
2 papers
NM_005670.4
p.C169S
c.505T>A
2 papers
NM_005670.4
p.C169S
c.506G>C
7 papers
NM_005670.4
p.N163D
c.487A>G
14 papers
NM_005670.4
p.R171H
c.512G>A
1 paper
NM_005670.4
p.R159S
c.477A>T
1 paper
NM_005670.4
p.H175delFs
c.525delA
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