Varaico: Literature-Extracted Genetic Variants

Gene:EPM2A
Variant:p.P42fs

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.P42fs
c.124_125fs
Surrounding Variants
1 paper
NM_005670.4
p.R31_R41del0
c.91_123del33
1 paper
NM_005670.4
p.P42delFs
c.125delG
1 paper
NM_005670.4
p.E33_R41del0
c.98_121del24
1 paper
NM_005670.4
p.L40L
c.120G>T
1 paper
NM_005670.4
p.A43D
c.128C>A
1 paper
NM_005670.4
p.L40fs
c.118_119fs
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.R39insFs
c.115_116insT
1 paper
NM_005670.4
p.T45A
c.133A>G
3 papers
NM_005670.4
p.P34_T45delFs
c.102_133del32
6 papers
NM_005670.4
p.A46P
c.136G>C
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