Varaico: Literature-Extracted Genetic Variants

Gene:EPM2A
Variant:p.R39insFs

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.R39insFs
c.115_116insT
Surrounding Variants
1 paper
NM_005670.4
p.R39insFs
c.116dupG
1 paper
NM_005670.4
p.G30_R39del0
c.90_116del27
1 paper
NM_005670.4
p.L40fs
c.118_119fs
2 papers
NM_005670.4
p.A37fs
c.109_110fs
1 paper
NM_005670.4
p.L40L
c.120G>T
1 paper
NM_005670.4
p.A37fs
c.109_110fs
5 papers
NM_005670.4
p.G36fs
c.106_107fs
1 paper
NM_005670.4
p.E33_R41del0
c.98_121del24
1 paper
NM_005670.4
p.P42fs
c.124_125fs
1 paper
NM_005670.4
p.W32_R35delFs
c.94_104del11
1 paper
NM_005670.4
p.R31_R41del0
c.91_123del33
1 paper
NM_005670.4
p.P42delFs
c.125delG
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